Canonical Allele Identifier: CA480063214

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309148G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915364G>C , CM000674.2:g.51915364G>C	GRCh38
NC_000012.11:g.52309148G>C , CM000674.1:g.52309148G>C	GRCh37
NC_000012.10:g.50595415G>C	NCBI36
NG_009549.1:g.12947G>C , LRG_543:g.12947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.642G>C	ENSP00000446724.2:p.Val214=
ENST00000551576.6:c.912G>C	ENSP00000455848.2:p.Val304=
ENST00000552678.2:c.912G>C	ENSP00000457394.2:p.Val304=
ENST00000388922.9:c.912G>C MANE Select	ENSP00000373574.4:p.Val304=
ENST00000388922.8:c.912G>C	ENSP00000373574.4:p.Val304=
ENST00000419526.6:c.390G>C	ENSP00000392492.2:p.Val130=
ENST00000550683.5:c.954G>C	ENSP00000447884.1:p.Val318=
NM_000020.2:c.912G>C , LRG_543t1:c.912G>C	NP_000011.2:p.Val304=
NM_001077401.1:c.912G>C	NP_001070869.1:p.Val304=
XM_005269235.2:c.912G>C	XP_005269292.1:p.Val304=
XM_011539008.1:c.642G>C	XP_011537310.1:p.Val214=
XM_024449279.1:c.123G>C	XP_024305047.1:p.Val41=
NM_000020.3:c.912G>C MANE Select	NP_000011.2:p.Val304=
NM_001077401.2:c.912G>C	NP_001070869.1:p.Val304=