Canonical Allele Identifier: CA337779061

Gene: AGRN

Linked Data

• dbSNP Id: rs1645219590
• gnomAD v4: 1-1049738-C-A
• MyVariant Identifiers: chr1:g.985118C>A (hg19) ; chr1:g.1049738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049738C>A , CM000663.2:g.1049738C>A	GRCh38
NC_000001.10:g.985118C>A , CM000663.1:g.985118C>A	GRCh37
NC_000001.9:g.974981C>A	NCBI36
NG_016346.1:g.34616C>A , LRG_198:g.34616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4687C>A MANE Select	ENSP00000368678.2:p.Pro1563Thr
ENST00000651234.1:c.4372C>A	ENSP00000499046.1:p.Pro1458Thr
ENST00000652369.1:c.4372C>A	ENSP00000498543.1:p.Pro1458Thr
ENST00000379370.6:c.4687C>A	ENSP00000368678.2:p.Pro1563Thr
ENST00000620552.4:c.4273C>A	ENSP00000484607.1:p.Pro1425Thr
NM_001305275.1:c.4687C>A	NP_001292204.1:p.Pro1563Thr
NM_198576.3:c.4687C>A	NP_940978.2:p.Pro1563Thr
XM_005244749.2:c.4687C>A	XP_005244806.1:p.Pro1563Thr
XM_006710635.2:c.4687C>A	XP_006710698.1:p.Pro1563Thr
XM_011541429.1:c.4687C>A	XP_011539731.1:p.Pro1563Thr
XM_011541430.1:c.3814C>A	XP_011539732.1:p.Pro1272Thr
XM_011541431.1:c.2953C>A	XP_011539733.1:p.Pro985Thr
XR_946650.1:n.4754C>A
NM_001364727.1:c.4372C>A	NP_001351656.1:p.Pro1458Thr
XM_005244749.3:c.4687C>A	XP_005244806.1:p.Pro1563Thr
XM_011541429.2:c.4687C>A	XP_011539731.1:p.Pro1563Thr
XR_946650.2:n.4758C>A
NM_001305275.2:c.4687C>A	NP_001292204.1:p.Pro1563Thr
NM_198576.4:c.4687C>A MANE Select	NP_940978.2:p.Pro1563Thr
NM_001364727.2:c.4372C>A	NP_001351656.1:p.Pro1458Thr