Canonical Allele Identifier: CA479807241

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52308251G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914467G>T , CM000674.2:g.51914467G>T	GRCh38
NC_000012.11:g.52308251G>T , CM000674.1:g.52308251G>T	GRCh37
NC_000012.10:g.50594518G>T	NCBI36
NG_009549.1:g.12050G>T , LRG_543:g.12050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.384G>T	ENSP00000446724.2:p.Arg128=
ENST00000551576.6:c.654G>T	ENSP00000455848.2:p.Arg218=
ENST00000552678.2:c.654G>T	ENSP00000457394.2:p.Arg218=
ENST00000388922.9:c.654G>T MANE Select	ENSP00000373574.4:p.Arg218=
ENST00000388922.8:c.654G>T	ENSP00000373574.4:p.Arg218=
ENST00000419526.6:c.132G>T	ENSP00000392492.2:p.Arg44=
ENST00000547400.5:c.384G>T	ENSP00000446724.1:p.Arg128=
ENST00000550683.5:c.696G>T	ENSP00000447884.1:p.Arg232=
NM_000020.2:c.654G>T , LRG_543t1:c.654G>T	NP_000011.2:p.Arg218=
NM_001077401.1:c.654G>T	NP_001070869.1:p.Arg218=
XM_005269235.2:c.654G>T	XP_005269292.1:p.Arg218=
XM_011539008.1:c.384G>T	XP_011537310.1:p.Arg128=
XM_024449279.1:c.-136G>T	XP_024305047.1:n.-136G>T
NM_000020.3:c.654G>T MANE Select	NP_000011.2:p.Arg218=
NM_001077401.2:c.654G>T	NP_001070869.1:p.Arg218=