Canonical Allele Identifier: CA337851636

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047862-C-A
• MyVariant Identifiers: chr1:g.983242C>A (hg19) ; chr1:g.1047862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047862C>A , CM000663.2:g.1047862C>A	GRCh38
NC_000001.10:g.983242C>A , CM000663.1:g.983242C>A	GRCh37
NC_000001.9:g.973105C>A	NCBI36
NG_016346.1:g.32740C>A , LRG_198:g.32740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3718C>A MANE Select	ENSP00000368678.2:p.Pro1240Thr
ENST00000651234.1:c.3403C>A	ENSP00000499046.1:p.Pro1135Thr
ENST00000652369.1:c.3403C>A	ENSP00000498543.1:p.Pro1135Thr
ENST00000379370.6:c.3718C>A	ENSP00000368678.2:p.Pro1240Thr
ENST00000466223.1:n.456C>A
ENST00000620552.4:c.3304C>A	ENSP00000484607.1:p.Pro1102Thr
NM_001305275.1:c.3718C>A	NP_001292204.1:p.Pro1240Thr
NM_198576.3:c.3718C>A	NP_940978.2:p.Pro1240Thr
XM_005244749.2:c.3718C>A	XP_005244806.1:p.Pro1240Thr
XM_006710635.2:c.3718C>A	XP_006710698.1:p.Pro1240Thr
XM_011541429.1:c.3718C>A	XP_011539731.1:p.Pro1240Thr
XM_011541430.1:c.2845C>A	XP_011539732.1:p.Pro949Thr
XM_011541431.1:c.1984C>A	XP_011539733.1:p.Pro662Thr
XR_946650.1:n.3785C>A
NM_001364727.1:c.3403C>A	NP_001351656.1:p.Pro1135Thr
XM_005244749.3:c.3718C>A	XP_005244806.1:p.Pro1240Thr
XM_011541429.2:c.3718C>A	XP_011539731.1:p.Pro1240Thr
XR_946650.2:n.3789C>A
NM_001305275.2:c.3718C>A	NP_001292204.1:p.Pro1240Thr
NM_198576.4:c.3718C>A MANE Select	NP_940978.2:p.Pro1240Thr
NM_001364727.2:c.3403C>A	NP_001351656.1:p.Pro1135Thr