Canonical Allele Identifier: CA384900956

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915368-G-A
• COSMIC: COSM4042756 ; COSM4042757
• MyVariant Identifiers: chr12:g.52309152G>A (hg19) ; chr12:g.51915368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915368G>A , CM000674.2:g.51915368G>A	GRCh38
NC_000012.11:g.52309152G>A , CM000674.1:g.52309152G>A	GRCh37
NC_000012.10:g.50595419G>A	NCBI36
NG_009549.1:g.12951G>A , LRG_543:g.12951G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.646G>A	ENSP00000446724.2:p.Ala216Thr
ENST00000551576.6:c.916G>A	ENSP00000455848.2:p.Ala306Thr
ENST00000552678.2:c.916G>A	ENSP00000457394.2:p.Ala306Thr
ENST00000388922.9:c.916G>A MANE Select	ENSP00000373574.4:p.Ala306Thr
ENST00000388922.8:c.916G>A	ENSP00000373574.4:p.Ala306Thr
ENST00000419526.6:c.394G>A	ENSP00000392492.2:p.Ala132Thr
ENST00000550683.5:c.958G>A	ENSP00000447884.1:p.Ala320Thr
NM_000020.2:c.916G>A , LRG_543t1:c.916G>A	NP_000011.2:p.Ala306Thr
NM_001077401.1:c.916G>A	NP_001070869.1:p.Ala306Thr
XM_005269235.2:c.916G>A	XP_005269292.1:p.Ala306Thr
XM_011539008.1:c.646G>A	XP_011537310.1:p.Ala216Thr
XM_024449279.1:c.127G>A	XP_024305047.1:p.Ala43Thr
NM_000020.3:c.916G>A MANE Select	NP_000011.2:p.Ala306Thr
NM_001077401.2:c.916G>A	NP_001070869.1:p.Ala306Thr