Canonical Allele Identifier: CA346776720

Gene: NRXN1

Linked Data

• MyVariant Identifiers: chr2:g.50724492A>G (hg19) ; chr2:g.50497354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50497354A>G , CM000664.2:g.50497354A>G	GRCh38
NC_000002.11:g.50724492A>G , CM000664.1:g.50724492A>G	GRCh37
NC_000002.10:g.50577996A>G	NCBI36
NG_011878.1:g.540183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.2858T>C MANE Select	ENSP00000385017.2:p.Ile953Thr
ENST00000462791.2:n.834T>C
ENST00000636298.1:n.1757T>C
ENST00000637889.1:n.25T>C
ENST00000331040.9:c.2012T>C	ENSP00000489573.1:p.Ile671Thr
ENST00000401669.6:c.2858T>C	ENSP00000385017.2:p.Ile953Thr
ENST00000402717.6:c.2003T>C	ENSP00000385434.4:p.Ile668Thr
ENST00000404971.5:c.2978T>C	ENSP00000385142.1:p.Ile993Thr
ENST00000405472.7:c.2822T>C	ENSP00000434015.2:p.Ile941Thr
ENST00000406316.6:c.2858T>C	ENSP00000384311.2:p.Ile953Thr
ENST00000406859.7:c.2048T>C	ENSP00000385681.4:p.Ile683Thr
ENST00000625672.2:c.2834T>C	ENSP00000485887.1:p.Ile945Thr
ENST00000630543.2:c.2834T>C	ENSP00000486879.1:p.Ile945Thr
NM_001135659.1:c.2978T>C	NP_001129131.1:p.Ile993Thr
NM_004801.4:c.2858T>C	NP_004792.1:p.Ile953Thr
XM_005264642.2:c.2879T>C	XP_005264699.1:p.Ile960Thr
XM_005264643.2:c.2834T>C	XP_005264700.1:p.Ile945Thr
XM_006712137.2:c.2879T>C	XP_006712200.1:p.Ile960Thr
XM_006712140.2:c.2879T>C	XP_006712203.1:p.Ile960Thr
XM_006712141.2:c.2879T>C	XP_006712204.1:p.Ile960Thr
XM_011533167.1:c.2879T>C	XP_011531469.1:p.Ile960Thr
XM_011533168.1:c.2876T>C	XP_011531470.1:p.Ile959Thr
XM_011533169.1:c.2867T>C	XP_011531471.1:p.Ile956Thr
XM_011533170.1:c.2861T>C	XP_011531472.1:p.Ile954Thr
XM_011533171.1:c.2858T>C	XP_011531473.1:p.Ile953Thr
XM_011533172.1:c.2852T>C	XP_011531474.1:p.Ile951Thr
XM_011533173.1:c.2849T>C	XP_011531475.1:p.Ile950Thr
XM_011533174.1:c.2834T>C	XP_011531476.1:p.Ile945Thr
XM_011533175.1:c.2822T>C	XP_011531477.1:p.Ile941Thr
XM_011533176.1:c.2819T>C	XP_011531478.1:p.Ile940Thr
XM_011533177.1:c.2879T>C	XP_011531479.1:p.Ile960Thr
XM_011533178.1:c.2789T>C	XP_011531480.1:p.Ile930Thr
XM_011533179.1:c.2834T>C	XP_011531481.1:p.Ile945Thr
XM_011533180.1:c.2879T>C	XP_011531482.1:p.Ile960Thr
XM_011533181.1:c.2084T>C	XP_011531483.1:p.Ile695Thr
XM_011533182.1:c.2039T>C	XP_011531484.1:p.Ile680Thr
XM_011533183.1:c.2012T>C	XP_011531485.1:p.Ile671Thr
XM_011533184.1:c.1919T>C	XP_011531486.1:p.Ile640Thr
NM_001135659.2:c.2978T>C	NP_001129131.1:p.Ile993Thr
NM_001330077.1:c.2834T>C	NP_001317006.1:p.Ile945Thr
NM_001330078.1:c.2858T>C	NP_001317007.1:p.Ile953Thr
NM_001330082.1:c.2834T>C	NP_001317011.1:p.Ile945Thr
NM_001330083.1:c.2792T>C	NP_001317012.1:p.Ile931Thr
NM_001330084.1:c.2792T>C	NP_001317013.1:p.Ile931Thr
NM_001330085.1:c.2831T>C	NP_001317014.1:p.Ile944Thr
NM_001330086.1:c.2858T>C	NP_001317015.1:p.Ile953Thr
NM_001330087.1:c.2747T>C	NP_001317016.1:p.Ile916Thr
NM_001330088.1:c.2777T>C	NP_001317017.1:p.Ile926Thr
NM_001330093.1:c.2855T>C	NP_001317022.1:p.Ile952Thr
NM_001330094.1:c.2846T>C	NP_001317023.1:p.Ile949Thr
NM_001330095.1:c.2807T>C	NP_001317024.1:p.Ile936Thr
NM_001330096.1:c.2747T>C	NP_001317025.1:p.Ile916Thr
NM_004801.5:c.2858T>C	NP_004792.1:p.Ile953Thr
XM_005264642.4:c.2879T>C	XP_005264699.1:p.Ile960Thr
XM_006712137.4:c.2879T>C	XP_006712200.1:p.Ile960Thr
XM_006712140.4:c.2879T>C	XP_006712203.2:p.Ile960Thr
XM_011533167.3:c.2879T>C	XP_011531469.1:p.Ile960Thr
XM_011533172.3:c.2852T>C	XP_011531474.1:p.Ile951Thr
XM_011533175.3:c.2822T>C	XP_011531477.1:p.Ile941Thr
XM_011533177.3:c.2879T>C	XP_011531479.1:p.Ile960Thr
XM_011533178.3:c.2789T>C	XP_011531480.1:p.Ile930Thr
XM_011533180.3:c.2879T>C	XP_011531482.1:p.Ile960Thr
XM_011533183.2:c.2012T>C	XP_011531485.1:p.Ile671Thr
XM_017005303.2:c.2879T>C	XP_016860792.1:p.Ile960Thr
XM_017005304.2:c.2876T>C	XP_016860793.1:p.Ile959Thr
XM_017005305.2:c.2879T>C	XP_016860794.1:p.Ile960Thr
XM_017005306.2:c.2867T>C	XP_016860795.1:p.Ile956Thr
XM_017005307.2:c.2861T>C	XP_016860796.1:p.Ile954Thr
XM_017005308.2:c.2858T>C	XP_016860797.1:p.Ile953Thr
XM_017005309.2:c.2852T>C	XP_016860798.1:p.Ile951Thr
XM_017005310.2:c.2849T>C	XP_016860799.1:p.Ile950Thr
XM_017005311.2:c.2834T>C	XP_016860800.1:p.Ile945Thr
XM_017005314.2:c.2819T>C	XP_016860803.1:p.Ile940Thr
XM_017005315.2:c.2852T>C	XP_016860804.1:p.Ile951Thr
XM_017005316.2:c.2816T>C	XP_016860805.1:p.Ile939Thr
XM_017005318.2:c.2807T>C	XP_016860807.1:p.Ile936Thr
XM_017005320.2:c.2831T>C	XP_016860809.1:p.Ile944Thr
XM_017005321.2:c.2879T>C	XP_016860810.1:p.Ile960Thr
XM_017005322.2:c.2879T>C	XP_016860811.1:p.Ile960Thr
XM_017005324.2:c.2852T>C	XP_016860813.1:p.Ile951Thr
XM_017005325.2:c.2852T>C	XP_016860814.1:p.Ile951Thr
XM_017005326.2:c.2840T>C	XP_016860815.1:p.Ile947Thr
XM_017005327.2:c.2834T>C	XP_016860816.1:p.Ile945Thr
XM_017005329.2:c.2879T>C	XP_016860818.1:p.Ile960Thr
XM_017005334.2:c.1919T>C	XP_016860823.1:p.Ile640Thr
NM_001330078.2:c.2858T>C MANE Select	NP_001317007.1:p.Ile953Thr
NM_001135659.3:c.2978T>C	NP_001129131.1:p.Ile993Thr
NM_001330077.2:c.2834T>C	NP_001317006.1:p.Ile945Thr
NM_001330082.2:c.2834T>C	NP_001317011.1:p.Ile945Thr
NM_001330083.2:c.2792T>C	NP_001317012.1:p.Ile931Thr
NM_001330084.2:c.2792T>C	NP_001317013.1:p.Ile931Thr
NM_001330085.2:c.2831T>C	NP_001317014.1:p.Ile944Thr
NM_001330086.2:c.2858T>C	NP_001317015.1:p.Ile953Thr
NM_001330087.2:c.2747T>C	NP_001317016.1:p.Ile916Thr
NM_001330088.2:c.2777T>C	NP_001317017.1:p.Ile926Thr
NM_001330093.2:c.2855T>C	NP_001317022.1:p.Ile952Thr
NM_001330094.2:c.2846T>C	NP_001317023.1:p.Ile949Thr
NM_001330095.2:c.2807T>C	NP_001317024.1:p.Ile936Thr
NM_001330096.2:c.2747T>C	NP_001317025.1:p.Ile916Thr
NM_004801.6:c.2858T>C	NP_004792.1:p.Ile953Thr