Canonical Allele Identifier: CA16759847

Gene: AGRN

Linked Data

• dbSNP Id: rs970361035
• gnomAD v4: 1-1047822-G-A
• MyVariant Identifiers: chr1:g.983202G>A (hg19) ; chr1:g.1047822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047822G>A , CM000663.2:g.1047822G>A	GRCh38
NC_000001.10:g.983202G>A , CM000663.1:g.983202G>A	GRCh37
NC_000001.9:g.973065G>A	NCBI36
NG_016346.1:g.32700G>A , LRG_198:g.32700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3678G>A MANE Select	ENSP00000368678.2:p.Gln1226=
ENST00000651234.1:c.3363G>A	ENSP00000499046.1:p.Gln1121=
ENST00000652369.1:c.3363G>A	ENSP00000498543.1:p.Gln1121=
ENST00000379370.6:c.3678G>A	ENSP00000368678.2:p.Gln1226=
ENST00000466223.1:n.416G>A
ENST00000478677.1:n.260G>A
ENST00000620552.4:c.3264G>A	ENSP00000484607.1:p.Gln1088=
NM_001305275.1:c.3678G>A	NP_001292204.1:p.Gln1226=
NM_198576.3:c.3678G>A	NP_940978.2:p.Gln1226=
XM_005244749.2:c.3678G>A	XP_005244806.1:p.Gln1226=
XM_006710635.2:c.3678G>A	XP_006710698.1:p.Gln1226=
XM_011541429.1:c.3678G>A	XP_011539731.1:p.Gln1226=
XM_011541430.1:c.2805G>A	XP_011539732.1:p.Gln935=
XM_011541431.1:c.1944G>A	XP_011539733.1:p.Gln648=
XR_946650.1:n.3745G>A
NM_001364727.1:c.3363G>A	NP_001351656.1:p.Gln1121=
XM_005244749.3:c.3678G>A	XP_005244806.1:p.Gln1226=
XM_011541429.2:c.3678G>A	XP_011539731.1:p.Gln1226=
XR_946650.2:n.3749G>A
NM_001305275.2:c.3678G>A	NP_001292204.1:p.Gln1226=
NM_198576.4:c.3678G>A MANE Select	NP_940978.2:p.Gln1226=
NM_001364727.2:c.3363G>A	NP_001351656.1:p.Gln1121=