Canonical Allele Identifier: CA16760395

Gene: AGRN

Linked Data

• dbSNP Id: rs868486470
• gnomAD v4: 1-1048300-G-T
• MyVariant Identifiers: chr1:g.983680G>T (hg19) ; chr1:g.1048300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048300G>T , CM000663.2:g.1048300G>T	GRCh38
NC_000001.10:g.983680G>T , CM000663.1:g.983680G>T	GRCh37
NC_000001.9:g.973543G>T	NCBI36
NG_016346.1:g.33178G>T , LRG_198:g.33178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4040G>T MANE Select	ENSP00000368678.2:p.Trp1347Leu
ENST00000651234.1:c.3725G>T	ENSP00000499046.1:p.Trp1242Leu
ENST00000652369.1:c.3725G>T	ENSP00000498543.1:p.Trp1242Leu
ENST00000379370.6:c.4040G>T	ENSP00000368678.2:p.Trp1347Leu
ENST00000620552.4:c.3626G>T	ENSP00000484607.1:p.Trp1209Leu
NM_001305275.1:c.4040G>T	NP_001292204.1:p.Trp1347Leu
NM_198576.3:c.4040G>T	NP_940978.2:p.Trp1347Leu
XM_005244749.2:c.4040G>T	XP_005244806.1:p.Trp1347Leu
XM_006710635.2:c.4040G>T	XP_006710698.1:p.Trp1347Leu
XM_011541429.1:c.4040G>T	XP_011539731.1:p.Trp1347Leu
XM_011541430.1:c.3167G>T	XP_011539732.1:p.Trp1056Leu
XM_011541431.1:c.2306G>T	XP_011539733.1:p.Trp769Leu
XR_946650.1:n.4107G>T
NM_001364727.1:c.3725G>T	NP_001351656.1:p.Trp1242Leu
XM_005244749.3:c.4040G>T	XP_005244806.1:p.Trp1347Leu
XM_011541429.2:c.4040G>T	XP_011539731.1:p.Trp1347Leu
XR_946650.2:n.4111G>T
NM_001305275.2:c.4040G>T	NP_001292204.1:p.Trp1347Leu
NM_198576.4:c.4040G>T MANE Select	NP_940978.2:p.Trp1347Leu
NM_001364727.2:c.3725G>T	NP_001351656.1:p.Trp1242Leu