Canonical Allele Identifier: CA346819205

Gene: NRXN1

Linked Data

• ClinVar Variation Id: 1734240
• ClinVar RCV Id: RCV002349041 ; RCV004545294
• gnomAD v4: 2-50091445-G-A
• MyVariant Identifiers: chr2:g.50318583G>A (hg19) ; chr2:g.50091445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50091445G>A , CM000664.2:g.50091445G>A	GRCh38
NC_000002.11:g.50318583G>A , CM000664.1:g.50318583G>A	GRCh37
NC_000002.10:g.50172087G>A	NCBI36
NG_011878.1:g.946092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3596C>T MANE Select	ENSP00000385017.2:p.Ala1199Val
ENST00000637889.1:n.763C>T
ENST00000637906.1:c.483C>T	ENSP00000490198.1:n.483C>T
ENST00000342183.9:c.491C>T	ENSP00000341184.5:p.Ala164Val
ENST00000401669.6:c.3596C>T	ENSP00000385017.2:p.Ala1199Val
ENST00000401710.5:c.491C>T	ENSP00000385580.2:p.Ala164Val
ENST00000404971.5:c.3716C>T	ENSP00000385142.1:p.Ala1239Val
ENST00000405472.7:c.3560C>T	ENSP00000434015.2:p.Ala1187Val
ENST00000406316.6:c.3596C>T	ENSP00000384311.2:p.Ala1199Val
ENST00000611589.4:c.-242C>T	ENSP00000483634.1:n.-242C>T
ENST00000625672.2:c.3572C>T	ENSP00000485887.1:p.Ala1191Val
ENST00000628364.2:c.491C>T	ENSP00000485815.1:p.Ala164Val
ENST00000630543.2:c.3572C>T	ENSP00000486879.1:p.Ala1191Val
ENST00000635264.1:n.405C>T
NM_001135659.1:c.3716C>T	NP_001129131.1:p.Ala1239Val
NM_004801.4:c.3596C>T	NP_004792.1:p.Ala1199Val
NM_138735.2:c.491C>T	NP_620072.1:p.Ala164Val
XM_005264642.2:c.3617C>T	XP_005264699.1:p.Ala1206Val
XM_005264643.2:c.3572C>T	XP_005264700.1:p.Ala1191Val
XM_006712137.2:c.3617C>T	XP_006712200.1:p.Ala1206Val
XM_006712140.2:c.3617C>T	XP_006712203.1:p.Ala1206Val
XM_006712141.2:c.3617C>T	XP_006712204.1:p.Ala1206Val
XM_011533167.1:c.3617C>T	XP_011531469.1:p.Ala1206Val
XM_011533168.1:c.3614C>T	XP_011531470.1:p.Ala1205Val
XM_011533169.1:c.3605C>T	XP_011531471.1:p.Ala1202Val
XM_011533170.1:c.3599C>T	XP_011531472.1:p.Ala1200Val
XM_011533171.1:c.3596C>T	XP_011531473.1:p.Ala1199Val
XM_011533172.1:c.3590C>T	XP_011531474.1:p.Ala1197Val
XM_011533173.1:c.3587C>T	XP_011531475.1:p.Ala1196Val
XM_011533174.1:c.3572C>T	XP_011531476.1:p.Ala1191Val
XM_011533175.1:c.3560C>T	XP_011531477.1:p.Ala1187Val
XM_011533176.1:c.3557C>T	XP_011531478.1:p.Ala1186Val
XM_011533177.1:c.3617C>T	XP_011531479.1:p.Ala1206Val
XM_011533178.1:c.3527C>T	XP_011531480.1:p.Ala1176Val
XM_011533179.1:c.3572C>T	XP_011531481.1:p.Ala1191Val
XM_011533180.1:c.3617C>T	XP_011531482.1:p.Ala1206Val
XM_011533181.1:c.2822C>T	XP_011531483.1:p.Ala941Val
XM_011533182.1:c.2777C>T	XP_011531484.1:p.Ala926Val
XM_011533183.1:c.2750C>T	XP_011531485.1:p.Ala917Val
XM_011533184.1:c.2657C>T	XP_011531486.1:p.Ala886Val
NM_001135659.2:c.3716C>T	NP_001129131.1:p.Ala1239Val
NM_001330077.1:c.3572C>T	NP_001317006.1:p.Ala1191Val
NM_001330078.1:c.3596C>T	NP_001317007.1:p.Ala1199Val
NM_001330082.1:c.3572C>T	NP_001317011.1:p.Ala1191Val
NM_001330083.1:c.3530C>T	NP_001317012.1:p.Ala1177Val
NM_001330084.1:c.3530C>T	NP_001317013.1:p.Ala1177Val
NM_001330085.1:c.3569C>T	NP_001317014.1:p.Ala1190Val
NM_001330086.1:c.3596C>T	NP_001317015.1:p.Ala1199Val
NM_001330087.1:c.3485C>T	NP_001317016.1:p.Ala1162Val
NM_001330088.1:c.3515C>T	NP_001317017.1:p.Ala1172Val
NM_001330091.1:c.491C>T	NP_001317020.1:p.Ala164Val
NM_001330092.1:c.491C>T	NP_001317021.1:p.Ala164Val
NM_001330093.1:c.3593C>T	NP_001317022.1:p.Ala1198Val
NM_001330094.1:c.3584C>T	NP_001317023.1:p.Ala1195Val
NM_001330095.1:c.3545C>T	NP_001317024.1:p.Ala1182Val
NM_001330096.1:c.3485C>T	NP_001317025.1:p.Ala1162Val
NM_001330097.1:c.491C>T	NP_001317026.1:p.Ala164Val
NM_004801.5:c.3596C>T	NP_004792.1:p.Ala1199Val
NM_138735.4:c.491C>T	NP_620072.1:p.Ala164Val
XM_005264642.4:c.3617C>T	XP_005264699.1:p.Ala1206Val
XM_006712137.4:c.3617C>T	XP_006712200.1:p.Ala1206Val
XM_006712140.4:c.3644C>T	XP_006712203.2:p.Ala1215Val
XM_011533167.3:c.3617C>T	XP_011531469.1:p.Ala1206Val
XM_011533172.3:c.3590C>T	XP_011531474.1:p.Ala1197Val
XM_011533175.3:c.3560C>T	XP_011531477.1:p.Ala1187Val
XM_011533177.3:c.3617C>T	XP_011531479.1:p.Ala1206Val
XM_011533178.3:c.3527C>T	XP_011531480.1:p.Ala1176Val
XM_011533180.3:c.3617C>T	XP_011531482.1:p.Ala1206Val
XM_011533183.2:c.2750C>T	XP_011531485.1:p.Ala917Val
XM_017005303.2:c.3644C>T	XP_016860792.1:p.Ala1215Val
XM_017005304.2:c.3641C>T	XP_016860793.1:p.Ala1214Val
XM_017005305.2:c.3644C>T	XP_016860794.1:p.Ala1215Val
XM_017005306.2:c.3632C>T	XP_016860795.1:p.Ala1211Val
XM_017005307.2:c.3626C>T	XP_016860796.1:p.Ala1209Val
XM_017005308.2:c.3623C>T	XP_016860797.1:p.Ala1208Val
XM_017005309.2:c.3617C>T	XP_016860798.1:p.Ala1206Val
XM_017005310.2:c.3614C>T	XP_016860799.1:p.Ala1205Val
XM_017005311.2:c.3599C>T	XP_016860800.1:p.Ala1200Val
XM_017005314.2:c.3584C>T	XP_016860803.1:p.Ala1195Val
XM_017005315.2:c.3590C>T	XP_016860804.1:p.Ala1197Val
XM_017005316.2:c.3581C>T	XP_016860805.1:p.Ala1194Val
XM_017005318.2:c.3572C>T	XP_016860807.1:p.Ala1191Val
XM_017005320.2:c.3569C>T	XP_016860809.1:p.Ala1190Val
XM_017005321.2:c.3644C>T	XP_016860810.1:p.Ala1215Val
XM_017005322.2:c.3644C>T	XP_016860811.1:p.Ala1215Val
XM_017005324.2:c.3590C>T	XP_016860813.1:p.Ala1197Val
XM_017005325.2:c.3590C>T	XP_016860814.1:p.Ala1197Val
XM_017005326.2:c.3578C>T	XP_016860815.1:p.Ala1193Val
XM_017005327.2:c.3572C>T	XP_016860816.1:p.Ala1191Val
XM_017005329.2:c.3644C>T	XP_016860818.1:p.Ala1215Val
XM_017005334.2:c.2684C>T	XP_016860823.1:p.Ala895Val
NM_001330078.2:c.3596C>T MANE Select	NP_001317007.1:p.Ala1199Val
NM_001135659.3:c.3716C>T	NP_001129131.1:p.Ala1239Val
NM_001330077.2:c.3572C>T	NP_001317006.1:p.Ala1191Val
NM_001330082.2:c.3572C>T	NP_001317011.1:p.Ala1191Val
NM_001330083.2:c.3530C>T	NP_001317012.1:p.Ala1177Val
NM_001330084.2:c.3530C>T	NP_001317013.1:p.Ala1177Val
NM_001330085.2:c.3569C>T	NP_001317014.1:p.Ala1190Val
NM_001330086.2:c.3596C>T	NP_001317015.1:p.Ala1199Val
NM_001330087.2:c.3485C>T	NP_001317016.1:p.Ala1162Val
NM_001330088.2:c.3515C>T	NP_001317017.1:p.Ala1172Val
NM_001330091.2:c.491C>T	NP_001317020.1:p.Ala164Val
NM_001330092.2:c.491C>T	NP_001317021.1:p.Ala164Val
NM_001330093.2:c.3593C>T	NP_001317022.1:p.Ala1198Val
NM_001330094.2:c.3584C>T	NP_001317023.1:p.Ala1195Val
NM_001330095.2:c.3545C>T	NP_001317024.1:p.Ala1182Val
NM_001330096.2:c.3485C>T	NP_001317025.1:p.Ala1162Val
NM_001330097.2:c.491C>T	NP_001317026.1:p.Ala164Val
NM_004801.6:c.3596C>T	NP_004792.1:p.Ala1199Val
NM_138735.5:c.491C>T	NP_620072.1:p.Ala164Val