Canonical Allele Identifier: CA426101617

Gene: NRXN1

Linked Data

• gnomAD v4: 2-50054962-G-T
• MyVariant Identifiers: chr2:g.50282100G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50054962G>T , CM000664.2:g.50054962G>T	GRCh38
NC_000002.11:g.50282100G>T , CM000664.1:g.50282100G>T	GRCh37
NC_000002.10:g.50135604G>T	NCBI36
NG_011878.1:g.982575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3801C>A MANE Select	ENSP00000385017.2:p.Leu1267=
ENST00000637889.1:n.968C>A
ENST00000637906.1:c.606-1372C>A	ENSP00000490198.1:n.606-1372C>A
ENST00000342183.9:c.614-1372C>A	ENSP00000341184.5:n.614-1372C>A
ENST00000401669.6:c.3801C>A	ENSP00000385017.2:p.Leu1267=
ENST00000401710.5:c.696C>A	ENSP00000385580.2:p.Leu232=
ENST00000404971.5:c.3921C>A	ENSP00000385142.1:p.Leu1307=
ENST00000405472.7:c.3765C>A	ENSP00000434015.2:p.Leu1255=
ENST00000406316.6:c.3719-1372C>A	ENSP00000384311.2:n.3719-1372C>A
ENST00000611589.4:c.-119-1372C>A	ENSP00000483634.1:n.-119-1372C>A
ENST00000625672.2:c.3777C>A	ENSP00000485887.1:p.Leu1259=
ENST00000628364.2:c.696C>A	ENSP00000485815.1:p.Leu232=
ENST00000630543.2:c.3777C>A	ENSP00000486879.1:p.Leu1259=
ENST00000635264.1:n.610C>A
NM_001135659.1:c.3921C>A	NP_001129131.1:p.Leu1307=
NM_004801.4:c.3719-1372C>A	NP_004792.1:n.3719-1372C>A
NM_138735.2:c.614-1372C>A	NP_620072.1:n.614-1372C>A
XM_005264642.2:c.3822C>A	XP_005264699.1:p.Leu1274=
XM_005264643.2:c.3777C>A	XP_005264700.1:p.Leu1259=
XM_006712137.2:c.3740-1372C>A	XP_006712200.1:n.3740-1372C>A
XM_006712140.2:c.3822C>A	XP_006712203.1:p.Leu1274=
XM_011533167.1:c.3822C>A	XP_011531469.1:p.Leu1274=
XM_011533168.1:c.3819C>A	XP_011531470.1:p.Leu1273=
XM_011533169.1:c.3810C>A	XP_011531471.1:p.Leu1270=
XM_011533170.1:c.3804C>A	XP_011531472.1:p.Leu1268=
XM_011533171.1:c.3801C>A	XP_011531473.1:p.Leu1267=
XM_011533172.1:c.3795C>A	XP_011531474.1:p.Leu1265=
XM_011533173.1:c.3792C>A	XP_011531475.1:p.Leu1264=
XM_011533174.1:c.3777C>A	XP_011531476.1:p.Leu1259=
XM_011533175.1:c.3765C>A	XP_011531477.1:p.Leu1255=
XM_011533176.1:c.3762C>A	XP_011531478.1:p.Leu1254=
XM_011533177.1:c.3740-1372C>A	XP_011531479.1:n.3740-1372C>A
XM_011533178.1:c.3732C>A	XP_011531480.1:p.Leu1244=
XM_011533179.1:c.3695-1372C>A	XP_011531481.1:n.3695-1372C>A
XM_011533180.1:c.3822C>A	XP_011531482.1:p.Leu1274=
XM_011533181.1:c.3027C>A	XP_011531483.1:p.Leu1009=
XM_011533182.1:c.2982C>A	XP_011531484.1:p.Leu994=
XM_011533183.1:c.2955C>A	XP_011531485.1:p.Leu985=
XM_011533184.1:c.2862C>A	XP_011531486.1:p.Leu954=
NM_001135659.2:c.3921C>A	NP_001129131.1:p.Leu1307=
NM_001330077.1:c.3777C>A	NP_001317006.1:p.Leu1259=
NM_001330078.1:c.3801C>A	NP_001317007.1:p.Leu1267=
NM_001330082.1:c.3777C>A	NP_001317011.1:p.Leu1259=
NM_001330083.1:c.3653-1372C>A	NP_001317012.1:n.3653-1372C>A
NM_001330084.1:c.3735C>A	NP_001317013.1:p.Leu1245=
NM_001330085.1:c.3774C>A	NP_001317014.1:p.Leu1258=
NM_001330086.1:c.3801C>A	NP_001317015.1:p.Leu1267=
NM_001330087.1:c.3608-1372C>A	NP_001317016.1:n.3608-1372C>A
NM_001330088.1:c.3638-1372C>A	NP_001317017.1:n.3638-1372C>A
NM_001330091.1:c.696C>A	NP_001317020.1:p.Leu232=
NM_001330092.1:c.696C>A	NP_001317021.1:p.Leu232=
NM_001330093.1:c.3798C>A	NP_001317022.1:p.Leu1266=
NM_001330094.1:c.3789C>A	NP_001317023.1:p.Leu1263=
NM_001330095.1:c.3668-1372C>A	NP_001317024.1:n.3668-1372C>A
NM_001330096.1:c.3608-1372C>A	NP_001317025.1:n.3608-1372C>A
NM_001330097.1:c.614-1372C>A	NP_001317026.1:n.614-1372C>A
NM_004801.5:c.3719-1372C>A	NP_004792.1:n.3719-1372C>A
NM_138735.4:c.614-1372C>A	NP_620072.1:n.614-1372C>A
XM_005264642.4:c.3822C>A	XP_005264699.1:p.Leu1274=
XM_006712137.4:c.3740-1372C>A	XP_006712200.1:n.3740-1372C>A
XM_006712140.4:c.3849C>A	XP_006712203.2:p.Leu1283=
XM_011533167.3:c.3822C>A	XP_011531469.1:p.Leu1274=
XM_011533172.3:c.3795C>A	XP_011531474.1:p.Leu1265=
XM_011533175.3:c.3765C>A	XP_011531477.1:p.Leu1255=
XM_011533177.3:c.3740-1372C>A	XP_011531479.1:n.3740-1372C>A
XM_011533178.3:c.3732C>A	XP_011531480.1:p.Leu1244=
XM_011533180.3:c.3822C>A	XP_011531482.1:p.Leu1274=
XM_011533183.2:c.2955C>A	XP_011531485.1:p.Leu985=
XM_017005303.2:c.3849C>A	XP_016860792.1:p.Leu1283=
XM_017005304.2:c.3846C>A	XP_016860793.1:p.Leu1282=
XM_017005305.2:c.3849C>A	XP_016860794.1:p.Leu1283=
XM_017005306.2:c.3837C>A	XP_016860795.1:p.Leu1279=
XM_017005307.2:c.3831C>A	XP_016860796.1:p.Leu1277=
XM_017005308.2:c.3828C>A	XP_016860797.1:p.Leu1276=
XM_017005309.2:c.3822C>A	XP_016860798.1:p.Leu1274=
XM_017005310.2:c.3819C>A	XP_016860799.1:p.Leu1273=
XM_017005311.2:c.3804C>A	XP_016860800.1:p.Leu1268=
XM_017005314.2:c.3789C>A	XP_016860803.1:p.Leu1263=
XM_017005315.2:c.3795C>A	XP_016860804.1:p.Leu1265=
XM_017005316.2:c.3786C>A	XP_016860805.1:p.Leu1262=
XM_017005318.2:c.3777C>A	XP_016860807.1:p.Leu1259=
XM_017005320.2:c.3774C>A	XP_016860809.1:p.Leu1258=
XM_017005321.2:c.3767-1372C>A	XP_016860810.1:n.3767-1372C>A
XM_017005322.2:c.3767-1372C>A	XP_016860811.1:n.3767-1372C>A
XM_017005324.2:c.3713-1372C>A	XP_016860813.1:n.3713-1372C>A
XM_017005325.2:c.3713-1372C>A	XP_016860814.1:n.3713-1372C>A
XM_017005326.2:c.3701-1372C>A	XP_016860815.1:n.3701-1372C>A
XM_017005327.2:c.3695-1372C>A	XP_016860816.1:n.3695-1372C>A
XM_017005329.2:c.3849C>A	XP_016860818.1:p.Leu1283=
XM_017005334.2:c.2889C>A	XP_016860823.1:p.Leu963=
NM_001330078.2:c.3801C>A MANE Select	NP_001317007.1:p.Leu1267=
NM_001135659.3:c.3921C>A	NP_001129131.1:p.Leu1307=
NM_001330077.2:c.3777C>A	NP_001317006.1:p.Leu1259=
NM_001330082.2:c.3777C>A	NP_001317011.1:p.Leu1259=
NM_001330083.2:c.3653-1372C>A	NP_001317012.1:n.3653-1372C>A
NM_001330084.2:c.3735C>A	NP_001317013.1:p.Leu1245=
NM_001330085.2:c.3774C>A	NP_001317014.1:p.Leu1258=
NM_001330086.2:c.3801C>A	NP_001317015.1:p.Leu1267=
NM_001330087.2:c.3608-1372C>A	NP_001317016.1:n.3608-1372C>A
NM_001330088.2:c.3638-1372C>A	NP_001317017.1:n.3638-1372C>A
NM_001330091.2:c.696C>A	NP_001317020.1:p.Leu232=
NM_001330092.2:c.696C>A	NP_001317021.1:p.Leu232=
NM_001330093.2:c.3798C>A	NP_001317022.1:p.Leu1266=
NM_001330094.2:c.3789C>A	NP_001317023.1:p.Leu1263=
NM_001330095.2:c.3668-1372C>A	NP_001317024.1:n.3668-1372C>A
NM_001330096.2:c.3608-1372C>A	NP_001317025.1:n.3608-1372C>A
NM_001330097.2:c.614-1372C>A	NP_001317026.1:n.614-1372C>A
NM_004801.6:c.3719-1372C>A	NP_004792.1:n.3719-1372C>A
NM_138735.5:c.614-1372C>A	NP_620072.1:n.614-1372C>A