Canonical Allele Identifier: CA337851221

Gene: AGRN

Linked Data

• dbSNP Id: rs1415389720
• gnomAD v2: 1-983168-G-T
• gnomAD v4: 1-1047788-G-T
• MyVariant Identifiers: chr1:g.983168G>T (hg19) ; chr1:g.1047788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047788G>T , CM000663.2:g.1047788G>T	GRCh38
NC_000001.10:g.983168G>T , CM000663.1:g.983168G>T	GRCh37
NC_000001.9:g.973031G>T	NCBI36
NG_016346.1:g.32666G>T , LRG_198:g.32666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3644G>T MANE Select	ENSP00000368678.2:p.Arg1215Met
ENST00000651234.1:c.3329G>T	ENSP00000499046.1:p.Arg1110Met
ENST00000652369.1:c.3329G>T	ENSP00000498543.1:p.Arg1110Met
ENST00000379370.6:c.3644G>T	ENSP00000368678.2:p.Arg1215Met
ENST00000466223.1:n.382G>T
ENST00000478677.1:n.226G>T
ENST00000620552.4:c.3230G>T	ENSP00000484607.1:p.Arg1077Met
NM_001305275.1:c.3644G>T	NP_001292204.1:p.Arg1215Met
NM_198576.3:c.3644G>T	NP_940978.2:p.Arg1215Met
XM_005244749.2:c.3644G>T	XP_005244806.1:p.Arg1215Met
XM_006710635.2:c.3644G>T	XP_006710698.1:p.Arg1215Met
XM_011541429.1:c.3644G>T	XP_011539731.1:p.Arg1215Met
XM_011541430.1:c.2771G>T	XP_011539732.1:p.Arg924Met
XM_011541431.1:c.1910G>T	XP_011539733.1:p.Arg637Met
XR_946650.1:n.3711G>T
NM_001364727.1:c.3329G>T	NP_001351656.1:p.Arg1110Met
XM_005244749.3:c.3644G>T	XP_005244806.1:p.Arg1215Met
XM_011541429.2:c.3644G>T	XP_011539731.1:p.Arg1215Met
XR_946650.2:n.3715G>T
NM_001305275.2:c.3644G>T	NP_001292204.1:p.Arg1215Met
NM_198576.4:c.3644G>T MANE Select	NP_940978.2:p.Arg1215Met
NM_001364727.2:c.3329G>T	NP_001351656.1:p.Arg1110Met