Canonical Allele Identifier: CA346819193

Gene: NRXN1

Linked Data

• MyVariant Identifiers: chr2:g.50318576T>G (hg19) ; chr2:g.50091438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50091438T>G , CM000664.2:g.50091438T>G	GRCh38
NC_000002.11:g.50318576T>G , CM000664.1:g.50318576T>G	GRCh37
NC_000002.10:g.50172080T>G	NCBI36
NG_011878.1:g.946099A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3603A>C MANE Select	ENSP00000385017.2:p.Glu1201Asp
ENST00000637889.1:n.770A>C
ENST00000637906.1:c.490A>C	ENSP00000490198.1:n.490A>C
ENST00000342183.9:c.498A>C	ENSP00000341184.5:p.Glu166Asp
ENST00000401669.6:c.3603A>C	ENSP00000385017.2:p.Glu1201Asp
ENST00000401710.5:c.498A>C	ENSP00000385580.2:p.Glu166Asp
ENST00000404971.5:c.3723A>C	ENSP00000385142.1:p.Glu1241Asp
ENST00000405472.7:c.3567A>C	ENSP00000434015.2:p.Glu1189Asp
ENST00000406316.6:c.3603A>C	ENSP00000384311.2:p.Glu1201Asp
ENST00000611589.4:c.-235A>C	ENSP00000483634.1:n.-235A>C
ENST00000625672.2:c.3579A>C	ENSP00000485887.1:p.Glu1193Asp
ENST00000628364.2:c.498A>C	ENSP00000485815.1:p.Glu166Asp
ENST00000630543.2:c.3579A>C	ENSP00000486879.1:p.Glu1193Asp
ENST00000635264.1:n.412A>C
NM_001135659.1:c.3723A>C	NP_001129131.1:p.Glu1241Asp
NM_004801.4:c.3603A>C	NP_004792.1:p.Glu1201Asp
NM_138735.2:c.498A>C	NP_620072.1:p.Glu166Asp
XM_005264642.2:c.3624A>C	XP_005264699.1:p.Glu1208Asp
XM_005264643.2:c.3579A>C	XP_005264700.1:p.Glu1193Asp
XM_006712137.2:c.3624A>C	XP_006712200.1:p.Glu1208Asp
XM_006712140.2:c.3624A>C	XP_006712203.1:p.Glu1208Asp
XM_006712141.2:c.3624A>C	XP_006712204.1:p.Glu1208Asp
XM_011533167.1:c.3624A>C	XP_011531469.1:p.Glu1208Asp
XM_011533168.1:c.3621A>C	XP_011531470.1:p.Glu1207Asp
XM_011533169.1:c.3612A>C	XP_011531471.1:p.Glu1204Asp
XM_011533170.1:c.3606A>C	XP_011531472.1:p.Glu1202Asp
XM_011533171.1:c.3603A>C	XP_011531473.1:p.Glu1201Asp
XM_011533172.1:c.3597A>C	XP_011531474.1:p.Glu1199Asp
XM_011533173.1:c.3594A>C	XP_011531475.1:p.Glu1198Asp
XM_011533174.1:c.3579A>C	XP_011531476.1:p.Glu1193Asp
XM_011533175.1:c.3567A>C	XP_011531477.1:p.Glu1189Asp
XM_011533176.1:c.3564A>C	XP_011531478.1:p.Glu1188Asp
XM_011533177.1:c.3624A>C	XP_011531479.1:p.Glu1208Asp
XM_011533178.1:c.3534A>C	XP_011531480.1:p.Glu1178Asp
XM_011533179.1:c.3579A>C	XP_011531481.1:p.Glu1193Asp
XM_011533180.1:c.3624A>C	XP_011531482.1:p.Glu1208Asp
XM_011533181.1:c.2829A>C	XP_011531483.1:p.Glu943Asp
XM_011533182.1:c.2784A>C	XP_011531484.1:p.Glu928Asp
XM_011533183.1:c.2757A>C	XP_011531485.1:p.Glu919Asp
XM_011533184.1:c.2664A>C	XP_011531486.1:p.Glu888Asp
NM_001135659.2:c.3723A>C	NP_001129131.1:p.Glu1241Asp
NM_001330077.1:c.3579A>C	NP_001317006.1:p.Glu1193Asp
NM_001330078.1:c.3603A>C	NP_001317007.1:p.Glu1201Asp
NM_001330082.1:c.3579A>C	NP_001317011.1:p.Glu1193Asp
NM_001330083.1:c.3537A>C	NP_001317012.1:p.Glu1179Asp
NM_001330084.1:c.3537A>C	NP_001317013.1:p.Glu1179Asp
NM_001330085.1:c.3576A>C	NP_001317014.1:p.Glu1192Asp
NM_001330086.1:c.3603A>C	NP_001317015.1:p.Glu1201Asp
NM_001330087.1:c.3492A>C	NP_001317016.1:p.Glu1164Asp
NM_001330088.1:c.3522A>C	NP_001317017.1:p.Glu1174Asp
NM_001330091.1:c.498A>C	NP_001317020.1:p.Glu166Asp
NM_001330092.1:c.498A>C	NP_001317021.1:p.Glu166Asp
NM_001330093.1:c.3600A>C	NP_001317022.1:p.Glu1200Asp
NM_001330094.1:c.3591A>C	NP_001317023.1:p.Glu1197Asp
NM_001330095.1:c.3552A>C	NP_001317024.1:p.Glu1184Asp
NM_001330096.1:c.3492A>C	NP_001317025.1:p.Glu1164Asp
NM_001330097.1:c.498A>C	NP_001317026.1:p.Glu166Asp
NM_004801.5:c.3603A>C	NP_004792.1:p.Glu1201Asp
NM_138735.4:c.498A>C	NP_620072.1:p.Glu166Asp
XM_005264642.4:c.3624A>C	XP_005264699.1:p.Glu1208Asp
XM_006712137.4:c.3624A>C	XP_006712200.1:p.Glu1208Asp
XM_006712140.4:c.3651A>C	XP_006712203.2:p.Glu1217Asp
XM_011533167.3:c.3624A>C	XP_011531469.1:p.Glu1208Asp
XM_011533172.3:c.3597A>C	XP_011531474.1:p.Glu1199Asp
XM_011533175.3:c.3567A>C	XP_011531477.1:p.Glu1189Asp
XM_011533177.3:c.3624A>C	XP_011531479.1:p.Glu1208Asp
XM_011533178.3:c.3534A>C	XP_011531480.1:p.Glu1178Asp
XM_011533180.3:c.3624A>C	XP_011531482.1:p.Glu1208Asp
XM_011533183.2:c.2757A>C	XP_011531485.1:p.Glu919Asp
XM_017005303.2:c.3651A>C	XP_016860792.1:p.Glu1217Asp
XM_017005304.2:c.3648A>C	XP_016860793.1:p.Glu1216Asp
XM_017005305.2:c.3651A>C	XP_016860794.1:p.Glu1217Asp
XM_017005306.2:c.3639A>C	XP_016860795.1:p.Glu1213Asp
XM_017005307.2:c.3633A>C	XP_016860796.1:p.Glu1211Asp
XM_017005308.2:c.3630A>C	XP_016860797.1:p.Glu1210Asp
XM_017005309.2:c.3624A>C	XP_016860798.1:p.Glu1208Asp
XM_017005310.2:c.3621A>C	XP_016860799.1:p.Glu1207Asp
XM_017005311.2:c.3606A>C	XP_016860800.1:p.Glu1202Asp
XM_017005314.2:c.3591A>C	XP_016860803.1:p.Glu1197Asp
XM_017005315.2:c.3597A>C	XP_016860804.1:p.Glu1199Asp
XM_017005316.2:c.3588A>C	XP_016860805.1:p.Glu1196Asp
XM_017005318.2:c.3579A>C	XP_016860807.1:p.Glu1193Asp
XM_017005320.2:c.3576A>C	XP_016860809.1:p.Glu1192Asp
XM_017005321.2:c.3651A>C	XP_016860810.1:p.Glu1217Asp
XM_017005322.2:c.3651A>C	XP_016860811.1:p.Glu1217Asp
XM_017005324.2:c.3597A>C	XP_016860813.1:p.Glu1199Asp
XM_017005325.2:c.3597A>C	XP_016860814.1:p.Glu1199Asp
XM_017005326.2:c.3585A>C	XP_016860815.1:p.Glu1195Asp
XM_017005327.2:c.3579A>C	XP_016860816.1:p.Glu1193Asp
XM_017005329.2:c.3651A>C	XP_016860818.1:p.Glu1217Asp
XM_017005334.2:c.2691A>C	XP_016860823.1:p.Glu897Asp
NM_001330078.2:c.3603A>C MANE Select	NP_001317007.1:p.Glu1201Asp
NM_001135659.3:c.3723A>C	NP_001129131.1:p.Glu1241Asp
NM_001330077.2:c.3579A>C	NP_001317006.1:p.Glu1193Asp
NM_001330082.2:c.3579A>C	NP_001317011.1:p.Glu1193Asp
NM_001330083.2:c.3537A>C	NP_001317012.1:p.Glu1179Asp
NM_001330084.2:c.3537A>C	NP_001317013.1:p.Glu1179Asp
NM_001330085.2:c.3576A>C	NP_001317014.1:p.Glu1192Asp
NM_001330086.2:c.3603A>C	NP_001317015.1:p.Glu1201Asp
NM_001330087.2:c.3492A>C	NP_001317016.1:p.Glu1164Asp
NM_001330088.2:c.3522A>C	NP_001317017.1:p.Glu1174Asp
NM_001330091.2:c.498A>C	NP_001317020.1:p.Glu166Asp
NM_001330092.2:c.498A>C	NP_001317021.1:p.Glu166Asp
NM_001330093.2:c.3600A>C	NP_001317022.1:p.Glu1200Asp
NM_001330094.2:c.3591A>C	NP_001317023.1:p.Glu1197Asp
NM_001330095.2:c.3552A>C	NP_001317024.1:p.Glu1184Asp
NM_001330096.2:c.3492A>C	NP_001317025.1:p.Glu1164Asp
NM_001330097.2:c.498A>C	NP_001317026.1:p.Glu166Asp
NM_004801.6:c.3603A>C	NP_004792.1:p.Glu1201Asp
NM_138735.5:c.498A>C	NP_620072.1:p.Glu166Asp