Canonical Allele Identifier: CA346820141

Gene: NRXN1

Linked Data

• gnomAD v4: 2-50055009-G-A
• MyVariant Identifiers: chr2:g.50282147G>A (hg19) ; chr2:g.50055009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50055009G>A , CM000664.2:g.50055009G>A	GRCh38
NC_000002.11:g.50282147G>A , CM000664.1:g.50282147G>A	GRCh37
NC_000002.10:g.50135651G>A	NCBI36
NG_011878.1:g.982528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3754C>T MANE Select	ENSP00000385017.2:p.Gln1252Ter
ENST00000637889.1:n.921C>T
ENST00000637906.1:c.606-1419C>T	ENSP00000490198.1:n.606-1419C>T
ENST00000342183.9:c.614-1419C>T	ENSP00000341184.5:n.614-1419C>T
ENST00000401669.6:c.3754C>T	ENSP00000385017.2:p.Gln1252Ter
ENST00000401710.5:c.649C>T	ENSP00000385580.2:p.Gln217Ter
ENST00000404971.5:c.3874C>T	ENSP00000385142.1:p.Gln1292Ter
ENST00000405472.7:c.3718C>T	ENSP00000434015.2:p.Gln1240Ter
ENST00000406316.6:c.3719-1419C>T	ENSP00000384311.2:n.3719-1419C>T
ENST00000611589.4:c.-119-1419C>T	ENSP00000483634.1:n.-119-1419C>T
ENST00000625672.2:c.3730C>T	ENSP00000485887.1:p.Gln1244Ter
ENST00000628364.2:c.649C>T	ENSP00000485815.1:p.Gln217Ter
ENST00000630543.2:c.3730C>T	ENSP00000486879.1:p.Gln1244Ter
ENST00000635264.1:n.563C>T
NM_001135659.1:c.3874C>T	NP_001129131.1:p.Gln1292Ter
NM_004801.4:c.3719-1419C>T	NP_004792.1:n.3719-1419C>T
NM_138735.2:c.614-1419C>T	NP_620072.1:n.614-1419C>T
XM_005264642.2:c.3775C>T	XP_005264699.1:p.Gln1259Ter
XM_005264643.2:c.3730C>T	XP_005264700.1:p.Gln1244Ter
XM_006712137.2:c.3740-1419C>T	XP_006712200.1:n.3740-1419C>T
XM_006712140.2:c.3775C>T	XP_006712203.1:p.Gln1259Ter
XM_011533167.1:c.3775C>T	XP_011531469.1:p.Gln1259Ter
XM_011533168.1:c.3772C>T	XP_011531470.1:p.Gln1258Ter
XM_011533169.1:c.3763C>T	XP_011531471.1:p.Gln1255Ter
XM_011533170.1:c.3757C>T	XP_011531472.1:p.Gln1253Ter
XM_011533171.1:c.3754C>T	XP_011531473.1:p.Gln1252Ter
XM_011533172.1:c.3748C>T	XP_011531474.1:p.Gln1250Ter
XM_011533173.1:c.3745C>T	XP_011531475.1:p.Gln1249Ter
XM_011533174.1:c.3730C>T	XP_011531476.1:p.Gln1244Ter
XM_011533175.1:c.3718C>T	XP_011531477.1:p.Gln1240Ter
XM_011533176.1:c.3715C>T	XP_011531478.1:p.Gln1239Ter
XM_011533177.1:c.3740-1419C>T	XP_011531479.1:n.3740-1419C>T
XM_011533178.1:c.3685C>T	XP_011531480.1:p.Gln1229Ter
XM_011533179.1:c.3695-1419C>T	XP_011531481.1:n.3695-1419C>T
XM_011533180.1:c.3775C>T	XP_011531482.1:p.Gln1259Ter
XM_011533181.1:c.2980C>T	XP_011531483.1:p.Gln994Ter
XM_011533182.1:c.2935C>T	XP_011531484.1:p.Gln979Ter
XM_011533183.1:c.2908C>T	XP_011531485.1:p.Gln970Ter
XM_011533184.1:c.2815C>T	XP_011531486.1:p.Gln939Ter
NM_001135659.2:c.3874C>T	NP_001129131.1:p.Gln1292Ter
NM_001330077.1:c.3730C>T	NP_001317006.1:p.Gln1244Ter
NM_001330078.1:c.3754C>T	NP_001317007.1:p.Gln1252Ter
NM_001330082.1:c.3730C>T	NP_001317011.1:p.Gln1244Ter
NM_001330083.1:c.3653-1419C>T	NP_001317012.1:n.3653-1419C>T
NM_001330084.1:c.3688C>T	NP_001317013.1:p.Gln1230Ter
NM_001330085.1:c.3727C>T	NP_001317014.1:p.Gln1243Ter
NM_001330086.1:c.3754C>T	NP_001317015.1:p.Gln1252Ter
NM_001330087.1:c.3608-1419C>T	NP_001317016.1:n.3608-1419C>T
NM_001330088.1:c.3638-1419C>T	NP_001317017.1:n.3638-1419C>T
NM_001330091.1:c.649C>T	NP_001317020.1:p.Gln217Ter
NM_001330092.1:c.649C>T	NP_001317021.1:p.Gln217Ter
NM_001330093.1:c.3751C>T	NP_001317022.1:p.Gln1251Ter
NM_001330094.1:c.3742C>T	NP_001317023.1:p.Gln1248Ter
NM_001330095.1:c.3668-1419C>T	NP_001317024.1:n.3668-1419C>T
NM_001330096.1:c.3608-1419C>T	NP_001317025.1:n.3608-1419C>T
NM_001330097.1:c.614-1419C>T	NP_001317026.1:n.614-1419C>T
NM_004801.5:c.3719-1419C>T	NP_004792.1:n.3719-1419C>T
NM_138735.4:c.614-1419C>T	NP_620072.1:n.614-1419C>T
XM_005264642.4:c.3775C>T	XP_005264699.1:p.Gln1259Ter
XM_006712137.4:c.3740-1419C>T	XP_006712200.1:n.3740-1419C>T
XM_006712140.4:c.3802C>T	XP_006712203.2:p.Gln1268Ter
XM_011533167.3:c.3775C>T	XP_011531469.1:p.Gln1259Ter
XM_011533172.3:c.3748C>T	XP_011531474.1:p.Gln1250Ter
XM_011533175.3:c.3718C>T	XP_011531477.1:p.Gln1240Ter
XM_011533177.3:c.3740-1419C>T	XP_011531479.1:n.3740-1419C>T
XM_011533178.3:c.3685C>T	XP_011531480.1:p.Gln1229Ter
XM_011533180.3:c.3775C>T	XP_011531482.1:p.Gln1259Ter
XM_011533183.2:c.2908C>T	XP_011531485.1:p.Gln970Ter
XM_017005303.2:c.3802C>T	XP_016860792.1:p.Gln1268Ter
XM_017005304.2:c.3799C>T	XP_016860793.1:p.Gln1267Ter
XM_017005305.2:c.3802C>T	XP_016860794.1:p.Gln1268Ter
XM_017005306.2:c.3790C>T	XP_016860795.1:p.Gln1264Ter
XM_017005307.2:c.3784C>T	XP_016860796.1:p.Gln1262Ter
XM_017005308.2:c.3781C>T	XP_016860797.1:p.Gln1261Ter
XM_017005309.2:c.3775C>T	XP_016860798.1:p.Gln1259Ter
XM_017005310.2:c.3772C>T	XP_016860799.1:p.Gln1258Ter
XM_017005311.2:c.3757C>T	XP_016860800.1:p.Gln1253Ter
XM_017005314.2:c.3742C>T	XP_016860803.1:p.Gln1248Ter
XM_017005315.2:c.3748C>T	XP_016860804.1:p.Gln1250Ter
XM_017005316.2:c.3739C>T	XP_016860805.1:p.Gln1247Ter
XM_017005318.2:c.3730C>T	XP_016860807.1:p.Gln1244Ter
XM_017005320.2:c.3727C>T	XP_016860809.1:p.Gln1243Ter
XM_017005321.2:c.3767-1419C>T	XP_016860810.1:n.3767-1419C>T
XM_017005322.2:c.3767-1419C>T	XP_016860811.1:n.3767-1419C>T
XM_017005324.2:c.3713-1419C>T	XP_016860813.1:n.3713-1419C>T
XM_017005325.2:c.3713-1419C>T	XP_016860814.1:n.3713-1419C>T
XM_017005326.2:c.3701-1419C>T	XP_016860815.1:n.3701-1419C>T
XM_017005327.2:c.3695-1419C>T	XP_016860816.1:n.3695-1419C>T
XM_017005329.2:c.3802C>T	XP_016860818.1:p.Gln1268Ter
XM_017005334.2:c.2842C>T	XP_016860823.1:p.Gln948Ter
NM_001330078.2:c.3754C>T MANE Select	NP_001317007.1:p.Gln1252Ter
NM_001135659.3:c.3874C>T	NP_001129131.1:p.Gln1292Ter
NM_001330077.2:c.3730C>T	NP_001317006.1:p.Gln1244Ter
NM_001330082.2:c.3730C>T	NP_001317011.1:p.Gln1244Ter
NM_001330083.2:c.3653-1419C>T	NP_001317012.1:n.3653-1419C>T
NM_001330084.2:c.3688C>T	NP_001317013.1:p.Gln1230Ter
NM_001330085.2:c.3727C>T	NP_001317014.1:p.Gln1243Ter
NM_001330086.2:c.3754C>T	NP_001317015.1:p.Gln1252Ter
NM_001330087.2:c.3608-1419C>T	NP_001317016.1:n.3608-1419C>T
NM_001330088.2:c.3638-1419C>T	NP_001317017.1:n.3638-1419C>T
NM_001330091.2:c.649C>T	NP_001317020.1:p.Gln217Ter
NM_001330092.2:c.649C>T	NP_001317021.1:p.Gln217Ter
NM_001330093.2:c.3751C>T	NP_001317022.1:p.Gln1251Ter
NM_001330094.2:c.3742C>T	NP_001317023.1:p.Gln1248Ter
NM_001330095.2:c.3668-1419C>T	NP_001317024.1:n.3668-1419C>T
NM_001330096.2:c.3608-1419C>T	NP_001317025.1:n.3608-1419C>T
NM_001330097.2:c.614-1419C>T	NP_001317026.1:n.614-1419C>T
NM_004801.6:c.3719-1419C>T	NP_004792.1:n.3719-1419C>T
NM_138735.5:c.614-1419C>T	NP_620072.1:n.614-1419C>T