Canonical Allele Identifier: CA337779414

Gene: AGRN

Linked Data

• dbSNP Id: rs1645228979
• gnomAD v4: 1-1049949-C-G
• MyVariant Identifiers: chr1:g.985329C>G (hg19) ; chr1:g.1049949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1049949C>G , CM000663.2:g.1049949C>G	GRCh38
NC_000001.10:g.985329C>G , CM000663.1:g.985329C>G	GRCh37
NC_000001.9:g.975192C>G	NCBI36
NG_016346.1:g.34827C>G , LRG_198:g.34827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4791C>G MANE Select	ENSP00000368678.2:p.Cys1597Trp
ENST00000651234.1:c.4476C>G	ENSP00000499046.1:p.Cys1492Trp
ENST00000652369.1:c.4476C>G	ENSP00000498543.1:p.Cys1492Trp
ENST00000379370.6:c.4791C>G	ENSP00000368678.2:p.Cys1597Trp
ENST00000620552.4:c.4377C>G	ENSP00000484607.1:p.Cys1459Trp
NM_001305275.1:c.4791C>G	NP_001292204.1:p.Cys1597Trp
NM_198576.3:c.4791C>G	NP_940978.2:p.Cys1597Trp
XM_005244749.2:c.4791C>G	XP_005244806.1:p.Cys1597Trp
XM_006710635.2:c.4791C>G	XP_006710698.1:p.Cys1597Trp
XM_011541429.1:c.4791C>G	XP_011539731.1:p.Cys1597Trp
XM_011541430.1:c.3918C>G	XP_011539732.1:p.Cys1306Trp
XM_011541431.1:c.3057C>G	XP_011539733.1:p.Cys1019Trp
XR_946650.1:n.4858C>G
NM_001364727.1:c.4476C>G	NP_001351656.1:p.Cys1492Trp
XM_005244749.3:c.4791C>G	XP_005244806.1:p.Cys1597Trp
XM_011541429.2:c.4791C>G	XP_011539731.1:p.Cys1597Trp
XR_946650.2:n.4862C>G
NM_001305275.2:c.4791C>G	NP_001292204.1:p.Cys1597Trp
NM_198576.4:c.4791C>G MANE Select	NP_940978.2:p.Cys1597Trp
NM_001364727.2:c.4476C>G	NP_001351656.1:p.Cys1492Trp