Canonical Allele Identifier: CA479813946

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52312806G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919022G>T , CM000674.2:g.51919022G>T	GRCh38
NC_000012.11:g.52312806G>T , CM000674.1:g.52312806G>T	GRCh37
NC_000012.10:g.50599073G>T	NCBI36
NG_009549.1:g.16605G>T , LRG_543:g.16605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1014G>T	ENSP00000446724.2:p.Val338=
ENST00000551576.6:c.1284G>T	ENSP00000455848.2:p.Val428=
ENST00000552678.2:c.1284G>T	ENSP00000457394.2:p.Val428=
ENST00000388922.9:c.1284G>T MANE Select	ENSP00000373574.4:p.Val428=
ENST00000388922.8:c.1284G>T	ENSP00000373574.4:p.Val428=
ENST00000419526.6:c.762G>T	ENSP00000392492.2:p.Val254=
ENST00000547632.1:n.559G>T
ENST00000550683.5:c.1326G>T	ENSP00000447884.1:p.Val442=
ENST00000552678.1:c.289G>T
NM_000020.2:c.1284G>T , LRG_543t1:c.1284G>T	NP_000011.2:p.Val428=
NM_001077401.1:c.1284G>T	NP_001070869.1:p.Val428=
XM_005269235.2:c.1284G>T	XP_005269292.1:p.Val428=
XM_011539008.1:c.1014G>T	XP_011537310.1:p.Val338=
XM_024449279.1:c.495G>T	XP_024305047.1:p.Val165=
NM_000020.3:c.1284G>T MANE Select	NP_000011.2:p.Val428=
NM_001077401.2:c.1284G>T	NP_001070869.1:p.Val428=