Canonical Allele Identifier: CA415757033

Gene: AGRN

Linked Data

• dbSNP Id: rs1369905906
• gnomAD v2: 1-979261-G-A
• MyVariant Identifiers: chr1:g.979261G>A (hg19) ; chr1:g.1043881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1043881G>A , CM000663.2:g.1043881G>A	GRCh38
NC_000001.10:g.979261G>A , CM000663.1:g.979261G>A	GRCh37
NC_000001.9:g.969124G>A	NCBI36
NG_016346.1:g.28759G>A , LRG_198:g.28759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.1857G>A MANE Select	ENSP00000368678.2:p.Val619=
ENST00000651234.1:c.1542G>A	ENSP00000499046.1:p.Val514=
ENST00000652369.1:c.1542G>A	ENSP00000498543.1:p.Val514=
ENST00000379370.6:c.1857G>A	ENSP00000368678.2:p.Val619=
ENST00000620552.4:c.1443G>A	ENSP00000484607.1:p.Val481=
NM_001305275.1:c.1857G>A	NP_001292204.1:p.Val619=
NM_198576.3:c.1857G>A	NP_940978.2:p.Val619=
XM_005244749.2:c.1857G>A	XP_005244806.1:p.Val619=
XM_006710635.2:c.1857G>A	XP_006710698.1:p.Val619=
XM_011541429.1:c.1857G>A	XP_011539731.1:p.Val619=
XM_011541430.1:c.984G>A	XP_011539732.1:p.Val328=
XM_011541431.1:c.123G>A	XP_011539733.1:p.Val41=
XR_946650.1:n.1924G>A
NM_001364727.1:c.1542G>A	NP_001351656.1:p.Val514=
XM_005244749.3:c.1857G>A	XP_005244806.1:p.Val619=
XM_011541429.2:c.1857G>A	XP_011539731.1:p.Val619=
XR_946650.2:n.1928G>A
NM_001305275.2:c.1857G>A	NP_001292204.1:p.Val619=
NM_198576.4:c.1857G>A MANE Select	NP_940978.2:p.Val619=
NM_001364727.2:c.1542G>A	NP_001351656.1:p.Val514=