Canonical Allele Identifier: CA384902583

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51916133-C-A
• MyVariant Identifiers: chr12:g.52309917C>A (hg19) ; chr12:g.51916133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916133C>A , CM000674.2:g.51916133C>A	GRCh38
NC_000012.11:g.52309917C>A , CM000674.1:g.52309917C>A	GRCh37
NC_000012.10:g.50596184C>A	NCBI36
NG_009549.1:g.13716C>A , LRG_543:g.13716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.876C>A	ENSP00000446724.2:p.Asp292Glu
ENST00000551576.6:c.1146C>A	ENSP00000455848.2:p.Asp382Glu
ENST00000552678.2:c.1146C>A	ENSP00000457394.2:p.Asp382Glu
ENST00000388922.9:c.1146C>A MANE Select	ENSP00000373574.4:p.Asp382Glu
ENST00000388922.8:c.1146C>A	ENSP00000373574.4:p.Asp382Glu
ENST00000419526.6:c.624C>A	ENSP00000392492.2:p.Asp208Glu
ENST00000547632.1:n.421C>A
ENST00000550683.5:c.1188C>A	ENSP00000447884.1:p.Asp396Glu
ENST00000552678.1:c.151C>A
NM_000020.2:c.1146C>A , LRG_543t1:c.1146C>A	NP_000011.2:p.Asp382Glu
NM_001077401.1:c.1146C>A	NP_001070869.1:p.Asp382Glu
XM_005269235.2:c.1146C>A	XP_005269292.1:p.Asp382Glu
XM_011539008.1:c.876C>A	XP_011537310.1:p.Asp292Glu
XM_024449279.1:c.357C>A	XP_024305047.1:p.Asp119Glu
NM_000020.3:c.1146C>A MANE Select	NP_000011.2:p.Asp382Glu
NM_001077401.2:c.1146C>A	NP_001070869.1:p.Asp382Glu