Canonical Allele Identifier: CA479810899

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1344097089
• gnomAD v4: 12-51916142-C-T
• COSMIC: COSM3462126 ; COSM3462127
• MyVariant Identifiers: chr12:g.52309926C>T (hg19) ; chr12:g.51916142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916142C>T , CM000674.2:g.51916142C>T	GRCh38
NC_000012.11:g.52309926C>T , CM000674.1:g.52309926C>T	GRCh37
NC_000012.10:g.50596193C>T	NCBI36
NG_009549.1:g.13725C>T , LRG_543:g.13725C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.885C>T	ENSP00000446724.2:p.Ile295=
ENST00000551576.6:c.1155C>T	ENSP00000455848.2:p.Ile385=
ENST00000552678.2:c.1155C>T	ENSP00000457394.2:p.Ile385=
ENST00000388922.9:c.1155C>T MANE Select	ENSP00000373574.4:p.Ile385=
ENST00000388922.8:c.1155C>T	ENSP00000373574.4:p.Ile385=
ENST00000419526.6:c.633C>T	ENSP00000392492.2:p.Ile211=
ENST00000547632.1:n.430C>T
ENST00000550683.5:c.1197C>T	ENSP00000447884.1:p.Ile399=
ENST00000552678.1:c.160C>T
NM_000020.2:c.1155C>T , LRG_543t1:c.1155C>T	NP_000011.2:p.Ile385=
NM_001077401.1:c.1155C>T	NP_001070869.1:p.Ile385=
XM_005269235.2:c.1155C>T	XP_005269292.1:p.Ile385=
XM_011539008.1:c.885C>T	XP_011537310.1:p.Ile295=
XM_024449279.1:c.366C>T	XP_024305047.1:p.Ile122=
NM_000020.3:c.1155C>T MANE Select	NP_000011.2:p.Ile385=
NM_001077401.2:c.1155C>T	NP_001070869.1:p.Ile385=