Canonical Allele Identifier: CA346776731

Gene: NRXN1

Linked Data

• MyVariant Identifiers: chr2:g.50724496A>G (hg19) ; chr2:g.50497358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50497358A>G , CM000664.2:g.50497358A>G	GRCh38
NC_000002.11:g.50724496A>G , CM000664.1:g.50724496A>G	GRCh37
NC_000002.10:g.50578000A>G	NCBI36
NG_011878.1:g.540179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.2854T>C MANE Select	ENSP00000385017.2:p.Phe952Leu
ENST00000462791.2:n.830T>C
ENST00000636298.1:n.1753T>C
ENST00000637889.1:n.21T>C
ENST00000331040.9:c.2008T>C	ENSP00000489573.1:p.Phe670Leu
ENST00000401669.6:c.2854T>C	ENSP00000385017.2:p.Phe952Leu
ENST00000402717.6:c.1999T>C	ENSP00000385434.4:p.Phe667Leu
ENST00000404971.5:c.2974T>C	ENSP00000385142.1:p.Phe992Leu
ENST00000405472.7:c.2818T>C	ENSP00000434015.2:p.Phe940Leu
ENST00000406316.6:c.2854T>C	ENSP00000384311.2:p.Phe952Leu
ENST00000406859.7:c.2044T>C	ENSP00000385681.4:p.Phe682Leu
ENST00000625672.2:c.2830T>C	ENSP00000485887.1:p.Phe944Leu
ENST00000630543.2:c.2830T>C	ENSP00000486879.1:p.Phe944Leu
NM_001135659.1:c.2974T>C	NP_001129131.1:p.Phe992Leu
NM_004801.4:c.2854T>C	NP_004792.1:p.Phe952Leu
XM_005264642.2:c.2875T>C	XP_005264699.1:p.Phe959Leu
XM_005264643.2:c.2830T>C	XP_005264700.1:p.Phe944Leu
XM_006712137.2:c.2875T>C	XP_006712200.1:p.Phe959Leu
XM_006712140.2:c.2875T>C	XP_006712203.1:p.Phe959Leu
XM_006712141.2:c.2875T>C	XP_006712204.1:p.Phe959Leu
XM_011533167.1:c.2875T>C	XP_011531469.1:p.Phe959Leu
XM_011533168.1:c.2872T>C	XP_011531470.1:p.Phe958Leu
XM_011533169.1:c.2863T>C	XP_011531471.1:p.Phe955Leu
XM_011533170.1:c.2857T>C	XP_011531472.1:p.Phe953Leu
XM_011533171.1:c.2854T>C	XP_011531473.1:p.Phe952Leu
XM_011533172.1:c.2848T>C	XP_011531474.1:p.Phe950Leu
XM_011533173.1:c.2845T>C	XP_011531475.1:p.Phe949Leu
XM_011533174.1:c.2830T>C	XP_011531476.1:p.Phe944Leu
XM_011533175.1:c.2818T>C	XP_011531477.1:p.Phe940Leu
XM_011533176.1:c.2815T>C	XP_011531478.1:p.Phe939Leu
XM_011533177.1:c.2875T>C	XP_011531479.1:p.Phe959Leu
XM_011533178.1:c.2785T>C	XP_011531480.1:p.Phe929Leu
XM_011533179.1:c.2830T>C	XP_011531481.1:p.Phe944Leu
XM_011533180.1:c.2875T>C	XP_011531482.1:p.Phe959Leu
XM_011533181.1:c.2080T>C	XP_011531483.1:p.Phe694Leu
XM_011533182.1:c.2035T>C	XP_011531484.1:p.Phe679Leu
XM_011533183.1:c.2008T>C	XP_011531485.1:p.Phe670Leu
XM_011533184.1:c.1915T>C	XP_011531486.1:p.Phe639Leu
NM_001135659.2:c.2974T>C	NP_001129131.1:p.Phe992Leu
NM_001330077.1:c.2830T>C	NP_001317006.1:p.Phe944Leu
NM_001330078.1:c.2854T>C	NP_001317007.1:p.Phe952Leu
NM_001330082.1:c.2830T>C	NP_001317011.1:p.Phe944Leu
NM_001330083.1:c.2788T>C	NP_001317012.1:p.Phe930Leu
NM_001330084.1:c.2788T>C	NP_001317013.1:p.Phe930Leu
NM_001330085.1:c.2827T>C	NP_001317014.1:p.Phe943Leu
NM_001330086.1:c.2854T>C	NP_001317015.1:p.Phe952Leu
NM_001330087.1:c.2743T>C	NP_001317016.1:p.Phe915Leu
NM_001330088.1:c.2773T>C	NP_001317017.1:p.Phe925Leu
NM_001330093.1:c.2851T>C	NP_001317022.1:p.Phe951Leu
NM_001330094.1:c.2842T>C	NP_001317023.1:p.Phe948Leu
NM_001330095.1:c.2803T>C	NP_001317024.1:p.Phe935Leu
NM_001330096.1:c.2743T>C	NP_001317025.1:p.Phe915Leu
NM_004801.5:c.2854T>C	NP_004792.1:p.Phe952Leu
XM_005264642.4:c.2875T>C	XP_005264699.1:p.Phe959Leu
XM_006712137.4:c.2875T>C	XP_006712200.1:p.Phe959Leu
XM_006712140.4:c.2875T>C	XP_006712203.2:p.Phe959Leu
XM_011533167.3:c.2875T>C	XP_011531469.1:p.Phe959Leu
XM_011533172.3:c.2848T>C	XP_011531474.1:p.Phe950Leu
XM_011533175.3:c.2818T>C	XP_011531477.1:p.Phe940Leu
XM_011533177.3:c.2875T>C	XP_011531479.1:p.Phe959Leu
XM_011533178.3:c.2785T>C	XP_011531480.1:p.Phe929Leu
XM_011533180.3:c.2875T>C	XP_011531482.1:p.Phe959Leu
XM_011533183.2:c.2008T>C	XP_011531485.1:p.Phe670Leu
XM_017005303.2:c.2875T>C	XP_016860792.1:p.Phe959Leu
XM_017005304.2:c.2872T>C	XP_016860793.1:p.Phe958Leu
XM_017005305.2:c.2875T>C	XP_016860794.1:p.Phe959Leu
XM_017005306.2:c.2863T>C	XP_016860795.1:p.Phe955Leu
XM_017005307.2:c.2857T>C	XP_016860796.1:p.Phe953Leu
XM_017005308.2:c.2854T>C	XP_016860797.1:p.Phe952Leu
XM_017005309.2:c.2848T>C	XP_016860798.1:p.Phe950Leu
XM_017005310.2:c.2845T>C	XP_016860799.1:p.Phe949Leu
XM_017005311.2:c.2830T>C	XP_016860800.1:p.Phe944Leu
XM_017005314.2:c.2815T>C	XP_016860803.1:p.Phe939Leu
XM_017005315.2:c.2848T>C	XP_016860804.1:p.Phe950Leu
XM_017005316.2:c.2812T>C	XP_016860805.1:p.Phe938Leu
XM_017005318.2:c.2803T>C	XP_016860807.1:p.Phe935Leu
XM_017005320.2:c.2827T>C	XP_016860809.1:p.Phe943Leu
XM_017005321.2:c.2875T>C	XP_016860810.1:p.Phe959Leu
XM_017005322.2:c.2875T>C	XP_016860811.1:p.Phe959Leu
XM_017005324.2:c.2848T>C	XP_016860813.1:p.Phe950Leu
XM_017005325.2:c.2848T>C	XP_016860814.1:p.Phe950Leu
XM_017005326.2:c.2836T>C	XP_016860815.1:p.Phe946Leu
XM_017005327.2:c.2830T>C	XP_016860816.1:p.Phe944Leu
XM_017005329.2:c.2875T>C	XP_016860818.1:p.Phe959Leu
XM_017005334.2:c.1915T>C	XP_016860823.1:p.Phe639Leu
NM_001330078.2:c.2854T>C MANE Select	NP_001317007.1:p.Phe952Leu
NM_001135659.3:c.2974T>C	NP_001129131.1:p.Phe992Leu
NM_001330077.2:c.2830T>C	NP_001317006.1:p.Phe944Leu
NM_001330082.2:c.2830T>C	NP_001317011.1:p.Phe944Leu
NM_001330083.2:c.2788T>C	NP_001317012.1:p.Phe930Leu
NM_001330084.2:c.2788T>C	NP_001317013.1:p.Phe930Leu
NM_001330085.2:c.2827T>C	NP_001317014.1:p.Phe943Leu
NM_001330086.2:c.2854T>C	NP_001317015.1:p.Phe952Leu
NM_001330087.2:c.2743T>C	NP_001317016.1:p.Phe915Leu
NM_001330088.2:c.2773T>C	NP_001317017.1:p.Phe925Leu
NM_001330093.2:c.2851T>C	NP_001317022.1:p.Phe951Leu
NM_001330094.2:c.2842T>C	NP_001317023.1:p.Phe948Leu
NM_001330095.2:c.2803T>C	NP_001317024.1:p.Phe935Leu
NM_001330096.2:c.2743T>C	NP_001317025.1:p.Phe915Leu
NM_004801.6:c.2854T>C	NP_004792.1:p.Phe952Leu