Canonical Allele Identifier: CA337779625

Gene: AGRN

Linked Data

• gnomAD v4: 1-1050243-G-C
• MyVariant Identifiers: chr1:g.985623G>C (hg19) ; chr1:g.1050243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1050243G>C , CM000663.2:g.1050243G>C	GRCh38
NC_000001.10:g.985623G>C , CM000663.1:g.985623G>C	GRCh37
NC_000001.9:g.975486G>C	NCBI36
NG_016346.1:g.35121G>C , LRG_198:g.35121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4890G>C MANE Select	ENSP00000368678.2:p.Gln1630His
ENST00000651234.1:c.4575G>C	ENSP00000499046.1:p.Gln1525His
ENST00000652369.1:c.4575G>C	ENSP00000498543.1:p.Gln1525His
ENST00000379370.6:c.4890G>C	ENSP00000368678.2:p.Gln1630His
ENST00000620552.4:c.4476G>C	ENSP00000484607.1:p.Gln1492His
NM_001305275.1:c.4890G>C	NP_001292204.1:p.Gln1630His
NM_198576.3:c.4890G>C	NP_940978.2:p.Gln1630His
XM_005244749.2:c.4890G>C	XP_005244806.1:p.Gln1630His
XM_006710635.2:c.4890G>C	XP_006710698.1:p.Gln1630His
XM_011541429.1:c.4890G>C	XP_011539731.1:p.Gln1630His
XM_011541430.1:c.4017G>C	XP_011539732.1:p.Gln1339His
XM_011541431.1:c.3156G>C	XP_011539733.1:p.Gln1052His
XR_946650.1:n.4957G>C
NM_001364727.1:c.4575G>C	NP_001351656.1:p.Gln1525His
XM_005244749.3:c.4890G>C	XP_005244806.1:p.Gln1630His
XM_011541429.2:c.4890G>C	XP_011539731.1:p.Gln1630His
XR_946650.2:n.4961G>C
NM_001305275.2:c.4890G>C	NP_001292204.1:p.Gln1630His
NM_198576.4:c.4890G>C MANE Select	NP_940978.2:p.Gln1630His
NM_001364727.2:c.4575G>C	NP_001351656.1:p.Gln1525His