Canonical Allele Identifier: CA337834395

Gene: AGRN

Linked Data

• gnomAD v4: 1-1043840-G-T
• MyVariant Identifiers: chr1:g.979220G>T (hg19) ; chr1:g.1043840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043840G>T , CM000663.2:g.1043840G>T	GRCh38
NC_000001.10:g.979220G>T , CM000663.1:g.979220G>T	GRCh37
NC_000001.9:g.969083G>T	NCBI36
NG_016346.1:g.28718G>T , LRG_198:g.28718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1816G>T MANE Select	ENSP00000368678.2:p.Val606Leu
ENST00000651234.1:c.1501G>T	ENSP00000499046.1:p.Val501Leu
ENST00000652369.1:c.1501G>T	ENSP00000498543.1:p.Val501Leu
ENST00000379370.6:c.1816G>T	ENSP00000368678.2:p.Val606Leu
ENST00000620552.4:c.1402G>T	ENSP00000484607.1:p.Val468Leu
NM_001305275.1:c.1816G>T	NP_001292204.1:p.Val606Leu
NM_198576.3:c.1816G>T	NP_940978.2:p.Val606Leu
XM_005244749.2:c.1816G>T	XP_005244806.1:p.Val606Leu
XM_006710635.2:c.1816G>T	XP_006710698.1:p.Val606Leu
XM_011541429.1:c.1816G>T	XP_011539731.1:p.Val606Leu
XM_011541430.1:c.943G>T	XP_011539732.1:p.Val315Leu
XM_011541431.1:c.82G>T	XP_011539733.1:p.Val28Leu
XR_946650.1:n.1883G>T
NM_001364727.1:c.1501G>T	NP_001351656.1:p.Val501Leu
XM_005244749.3:c.1816G>T	XP_005244806.1:p.Val606Leu
XM_011541429.2:c.1816G>T	XP_011539731.1:p.Val606Leu
XR_946650.2:n.1887G>T
NM_001305275.2:c.1816G>T	NP_001292204.1:p.Val606Leu
NM_198576.4:c.1816G>T MANE Select	NP_940978.2:p.Val606Leu
NM_001364727.2:c.1501G>T	NP_001351656.1:p.Val501Leu