Canonical Allele Identifier: CA509181

Gene: AGRN

Linked Data

• dbSNP Id: rs764139323
• ExAC: 1:983186 G / T
• gnomAD v2: 1-983186-G-T
• gnomAD v3: 1-1047806-G-T
• gnomAD v4: 1-1047806-G-T
• COSMIC: COSM6405890
• MyVariant Identifiers: chr1:g.983186G>T (hg19) ; chr1:g.1047806G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047806G>T , CM000663.2:g.1047806G>T	GRCh38
NC_000001.10:g.983186G>T , CM000663.1:g.983186G>T	GRCh37
NC_000001.9:g.973049G>T	NCBI36
NG_016346.1:g.32684G>T , LRG_198:g.32684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3662G>T MANE Select	ENSP00000368678.2:p.Arg1221Leu
ENST00000651234.1:c.3347G>T	ENSP00000499046.1:p.Arg1116Leu
ENST00000652369.1:c.3347G>T	ENSP00000498543.1:p.Arg1116Leu
ENST00000379370.6:c.3662G>T	ENSP00000368678.2:p.Arg1221Leu
ENST00000466223.1:n.400G>T
ENST00000478677.1:n.244G>T
ENST00000620552.4:c.3248G>T	ENSP00000484607.1:p.Arg1083Leu
NM_001305275.1:c.3662G>T	NP_001292204.1:p.Arg1221Leu
NM_198576.3:c.3662G>T	NP_940978.2:p.Arg1221Leu
XM_005244749.2:c.3662G>T	XP_005244806.1:p.Arg1221Leu
XM_006710635.2:c.3662G>T	XP_006710698.1:p.Arg1221Leu
XM_011541429.1:c.3662G>T	XP_011539731.1:p.Arg1221Leu
XM_011541430.1:c.2789G>T	XP_011539732.1:p.Arg930Leu
XM_011541431.1:c.1928G>T	XP_011539733.1:p.Arg643Leu
XR_946650.1:n.3729G>T
NM_001364727.1:c.3347G>T	NP_001351656.1:p.Arg1116Leu
XM_005244749.3:c.3662G>T	XP_005244806.1:p.Arg1221Leu
XM_011541429.2:c.3662G>T	XP_011539731.1:p.Arg1221Leu
XR_946650.2:n.3733G>T
NM_001305275.2:c.3662G>T	NP_001292204.1:p.Arg1221Leu
NM_198576.4:c.3662G>T MANE Select	NP_940978.2:p.Arg1221Leu
NM_001364727.2:c.3347G>T	NP_001351656.1:p.Arg1116Leu