Canonical Allele Identifier: CA337834591

Gene: AGRN

Linked Data

• dbSNP Id: rs1431826683
• gnomAD v2: 1-979244-T-C
• gnomAD v4: 1-1043864-T-C
• MyVariant Identifiers: chr1:g.979244T>C (hg19) ; chr1:g.1043864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043864T>C , CM000663.2:g.1043864T>C	GRCh38
NC_000001.10:g.979244T>C , CM000663.1:g.979244T>C	GRCh37
NC_000001.9:g.969107T>C	NCBI36
NG_016346.1:g.28742T>C , LRG_198:g.28742T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1840T>C MANE Select	ENSP00000368678.2:p.Ser614Pro
ENST00000651234.1:c.1525T>C	ENSP00000499046.1:p.Ser509Pro
ENST00000652369.1:c.1525T>C	ENSP00000498543.1:p.Ser509Pro
ENST00000379370.6:c.1840T>C	ENSP00000368678.2:p.Ser614Pro
ENST00000620552.4:c.1426T>C	ENSP00000484607.1:p.Ser476Pro
NM_001305275.1:c.1840T>C	NP_001292204.1:p.Ser614Pro
NM_198576.3:c.1840T>C	NP_940978.2:p.Ser614Pro
XM_005244749.2:c.1840T>C	XP_005244806.1:p.Ser614Pro
XM_006710635.2:c.1840T>C	XP_006710698.1:p.Ser614Pro
XM_011541429.1:c.1840T>C	XP_011539731.1:p.Ser614Pro
XM_011541430.1:c.967T>C	XP_011539732.1:p.Ser323Pro
XM_011541431.1:c.106T>C	XP_011539733.1:p.Ser36Pro
XR_946650.1:n.1907T>C
NM_001364727.1:c.1525T>C	NP_001351656.1:p.Ser509Pro
XM_005244749.3:c.1840T>C	XP_005244806.1:p.Ser614Pro
XM_011541429.2:c.1840T>C	XP_011539731.1:p.Ser614Pro
XR_946650.2:n.1911T>C
NM_001305275.2:c.1840T>C	NP_001292204.1:p.Ser614Pro
NM_198576.4:c.1840T>C MANE Select	NP_940978.2:p.Ser614Pro
NM_001364727.2:c.1525T>C	NP_001351656.1:p.Ser509Pro