Canonical Allele Identifier: CA1030481130

Gene: NRXN1

Linked Data

• dbSNP Id: rs1693366598
• gnomAD v3: 2-50054895-G-A
• gnomAD v4: 2-50054895-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50054895G>A , CM000664.2:g.50054895G>A	GRCh38
NC_000002.11:g.50282033G>A , CM000664.1:g.50282033G>A	GRCh37
NC_000002.10:g.50135537G>A	NCBI36
NG_011878.1:g.982642C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401669.7:c.3808+60C>T MANE Select	ENSP00000385017.2:n.3808+60C>T
ENST00000637889.1:n.975+60C>T
ENST00000637906.1:c.606-1305C>T	ENSP00000490198.1:n.606-1305C>T
ENST00000342183.9:c.614-1305C>T	ENSP00000341184.5:n.614-1305C>T
ENST00000401669.6:c.3808+60C>T	ENSP00000385017.2:n.3808+60C>T
ENST00000401710.5:c.703+60C>T	ENSP00000385580.2:n.703+60C>T
ENST00000404971.5:c.3928+60C>T	ENSP00000385142.1:n.3928+60C>T
ENST00000405472.7:c.3772+60C>T	ENSP00000434015.2:n.3772+60C>T
ENST00000406316.6:c.3719-1305C>T	ENSP00000384311.2:n.3719-1305C>T
ENST00000611589.4:c.-119-1305C>T	ENSP00000483634.1:n.-119-1305C>T
ENST00000625672.2:c.3784+60C>T	ENSP00000485887.1:n.3784+60C>T
ENST00000628364.2:c.703+60C>T	ENSP00000485815.1:n.703+60C>T
ENST00000630543.2:c.3784+60C>T	ENSP00000486879.1:n.3784+60C>T
ENST00000635264.1:n.617+60C>T
NM_001135659.1:c.3928+60C>T	NP_001129131.1:n.3928+60C>T
NM_004801.4:c.3719-1305C>T	NP_004792.1:n.3719-1305C>T
NM_138735.2:c.614-1305C>T	NP_620072.1:n.614-1305C>T
XM_005264642.2:c.3829+60C>T	XP_005264699.1:n.3829+60C>T
XM_005264643.2:c.3784+60C>T	XP_005264700.1:n.3784+60C>T
XM_006712137.2:c.3740-1305C>T	XP_006712200.1:n.3740-1305C>T
XM_006712140.2:c.3829+60C>T	XP_006712203.1:n.3829+60C>T
XM_011533167.1:c.3829+60C>T	XP_011531469.1:n.3829+60C>T
XM_011533168.1:c.3826+60C>T	XP_011531470.1:n.3826+60C>T
XM_011533169.1:c.3817+60C>T	XP_011531471.1:n.3817+60C>T
XM_011533170.1:c.3811+60C>T	XP_011531472.1:n.3811+60C>T
XM_011533171.1:c.3808+60C>T	XP_011531473.1:n.3808+60C>T
XM_011533172.1:c.3802+60C>T	XP_011531474.1:n.3802+60C>T
XM_011533173.1:c.3799+60C>T	XP_011531475.1:n.3799+60C>T
XM_011533174.1:c.3784+60C>T	XP_011531476.1:n.3784+60C>T
XM_011533175.1:c.3772+60C>T	XP_011531477.1:n.3772+60C>T
XM_011533176.1:c.3769+60C>T	XP_011531478.1:n.3769+60C>T
XM_011533177.1:c.3740-1305C>T	XP_011531479.1:n.3740-1305C>T
XM_011533178.1:c.3739+60C>T	XP_011531480.1:n.3739+60C>T
XM_011533179.1:c.3695-1305C>T	XP_011531481.1:n.3695-1305C>T
XM_011533180.1:c.3829+60C>T	XP_011531482.1:n.3829+60C>T
XM_011533181.1:c.3034+60C>T	XP_011531483.1:n.3034+60C>T
XM_011533182.1:c.2989+60C>T	XP_011531484.1:n.2989+60C>T
XM_011533183.1:c.2962+60C>T	XP_011531485.1:n.2962+60C>T
XM_011533184.1:c.2869+60C>T	XP_011531486.1:n.2869+60C>T
NM_001135659.2:c.3928+60C>T	NP_001129131.1:n.3928+60C>T
NM_001330077.1:c.3784+60C>T	NP_001317006.1:n.3784+60C>T
NM_001330078.1:c.3808+60C>T	NP_001317007.1:n.3808+60C>T
NM_001330082.1:c.3784+60C>T	NP_001317011.1:n.3784+60C>T
NM_001330083.1:c.3653-1305C>T	NP_001317012.1:n.3653-1305C>T
NM_001330084.1:c.3742+60C>T	NP_001317013.1:n.3742+60C>T
NM_001330085.1:c.3781+60C>T	NP_001317014.1:n.3781+60C>T
NM_001330086.1:c.3808+60C>T	NP_001317015.1:n.3808+60C>T
NM_001330087.1:c.3608-1305C>T	NP_001317016.1:n.3608-1305C>T
NM_001330088.1:c.3638-1305C>T	NP_001317017.1:n.3638-1305C>T
NM_001330091.1:c.703+60C>T	NP_001317020.1:n.703+60C>T
NM_001330092.1:c.703+60C>T	NP_001317021.1:n.703+60C>T
NM_001330093.1:c.3805+60C>T	NP_001317022.1:n.3805+60C>T
NM_001330094.1:c.3796+60C>T	NP_001317023.1:n.3796+60C>T
NM_001330095.1:c.3668-1305C>T	NP_001317024.1:n.3668-1305C>T
NM_001330096.1:c.3608-1305C>T	NP_001317025.1:n.3608-1305C>T
NM_001330097.1:c.614-1305C>T	NP_001317026.1:n.614-1305C>T
NM_004801.5:c.3719-1305C>T	NP_004792.1:n.3719-1305C>T
NM_138735.4:c.614-1305C>T	NP_620072.1:n.614-1305C>T
XM_005264642.4:c.3829+60C>T	XP_005264699.1:n.3829+60C>T
XM_006712137.4:c.3740-1305C>T	XP_006712200.1:n.3740-1305C>T
XM_006712140.4:c.3856+60C>T	XP_006712203.2:n.3856+60C>T
XM_011533167.3:c.3829+60C>T	XP_011531469.1:n.3829+60C>T
XM_011533172.3:c.3802+60C>T	XP_011531474.1:n.3802+60C>T
XM_011533175.3:c.3772+60C>T	XP_011531477.1:n.3772+60C>T
XM_011533177.3:c.3740-1305C>T	XP_011531479.1:n.3740-1305C>T
XM_011533178.3:c.3739+60C>T	XP_011531480.1:n.3739+60C>T
XM_011533180.3:c.3829+60C>T	XP_011531482.1:n.3829+60C>T
XM_011533183.2:c.2962+60C>T	XP_011531485.1:n.2962+60C>T
XM_017005303.2:c.3856+60C>T	XP_016860792.1:n.3856+60C>T
XM_017005304.2:c.3853+60C>T	XP_016860793.1:n.3853+60C>T
XM_017005305.2:c.3856+60C>T	XP_016860794.1:n.3856+60C>T
XM_017005306.2:c.3844+60C>T	XP_016860795.1:n.3844+60C>T
XM_017005307.2:c.3838+60C>T	XP_016860796.1:n.3838+60C>T
XM_017005308.2:c.3835+60C>T	XP_016860797.1:n.3835+60C>T
XM_017005309.2:c.3829+60C>T	XP_016860798.1:n.3829+60C>T
XM_017005310.2:c.3826+60C>T	XP_016860799.1:n.3826+60C>T
XM_017005311.2:c.3811+60C>T	XP_016860800.1:n.3811+60C>T
XM_017005314.2:c.3796+60C>T	XP_016860803.1:n.3796+60C>T
XM_017005315.2:c.3802+60C>T	XP_016860804.1:n.3802+60C>T
XM_017005316.2:c.3793+60C>T	XP_016860805.1:n.3793+60C>T
XM_017005318.2:c.3784+60C>T	XP_016860807.1:n.3784+60C>T
XM_017005320.2:c.3781+60C>T	XP_016860809.1:n.3781+60C>T
XM_017005321.2:c.3767-1305C>T	XP_016860810.1:n.3767-1305C>T
XM_017005322.2:c.3767-1305C>T	XP_016860811.1:n.3767-1305C>T
XM_017005324.2:c.3713-1305C>T	XP_016860813.1:n.3713-1305C>T
XM_017005325.2:c.3713-1305C>T	XP_016860814.1:n.3713-1305C>T
XM_017005326.2:c.3701-1305C>T	XP_016860815.1:n.3701-1305C>T
XM_017005327.2:c.3695-1305C>T	XP_016860816.1:n.3695-1305C>T
XM_017005329.2:c.3856+60C>T	XP_016860818.1:n.3856+60C>T
XM_017005334.2:c.2896+60C>T	XP_016860823.1:n.2896+60C>T
NM_001330078.2:c.3808+60C>T MANE Select	NP_001317007.1:n.3808+60C>T
NM_001135659.3:c.3928+60C>T	NP_001129131.1:n.3928+60C>T
NM_001330077.2:c.3784+60C>T	NP_001317006.1:n.3784+60C>T
NM_001330082.2:c.3784+60C>T	NP_001317011.1:n.3784+60C>T
NM_001330083.2:c.3653-1305C>T	NP_001317012.1:n.3653-1305C>T
NM_001330084.2:c.3742+60C>T	NP_001317013.1:n.3742+60C>T
NM_001330085.2:c.3781+60C>T	NP_001317014.1:n.3781+60C>T
NM_001330086.2:c.3808+60C>T	NP_001317015.1:n.3808+60C>T
NM_001330087.2:c.3608-1305C>T	NP_001317016.1:n.3608-1305C>T
NM_001330088.2:c.3638-1305C>T	NP_001317017.1:n.3638-1305C>T
NM_001330091.2:c.703+60C>T	NP_001317020.1:n.703+60C>T
NM_001330092.2:c.703+60C>T	NP_001317021.1:n.703+60C>T
NM_001330093.2:c.3805+60C>T	NP_001317022.1:n.3805+60C>T
NM_001330094.2:c.3796+60C>T	NP_001317023.1:n.3796+60C>T
NM_001330095.2:c.3668-1305C>T	NP_001317024.1:n.3668-1305C>T
NM_001330096.2:c.3608-1305C>T	NP_001317025.1:n.3608-1305C>T
NM_001330097.2:c.614-1305C>T	NP_001317026.1:n.614-1305C>T
NM_004801.6:c.3719-1305C>T	NP_004792.1:n.3719-1305C>T
NM_138735.5:c.614-1305C>T	NP_620072.1:n.614-1305C>T