Canonical Allele Identifier: CA480063212

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309145T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915361T>G , CM000674.2:g.51915361T>G	GRCh38
NC_000012.11:g.52309145T>G , CM000674.1:g.52309145T>G	GRCh37
NC_000012.10:g.50595412T>G	NCBI36
NG_009549.1:g.12944T>G , LRG_543:g.12944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.639T>G	ENSP00000446724.2:p.Ala213=
ENST00000551576.6:c.909T>G	ENSP00000455848.2:p.Ala303=
ENST00000552678.2:c.909T>G	ENSP00000457394.2:p.Ala303=
ENST00000388922.9:c.909T>G MANE Select	ENSP00000373574.4:p.Ala303=
ENST00000388922.8:c.909T>G	ENSP00000373574.4:p.Ala303=
ENST00000419526.6:c.387T>G	ENSP00000392492.2:p.Ala129=
ENST00000550683.5:c.951T>G	ENSP00000447884.1:p.Ala317=
NM_000020.2:c.909T>G , LRG_543t1:c.909T>G	NP_000011.2:p.Ala303=
NM_001077401.1:c.909T>G	NP_001070869.1:p.Ala303=
XM_005269235.2:c.909T>G	XP_005269292.1:p.Ala303=
XM_011539008.1:c.639T>G	XP_011537310.1:p.Ala213=
XM_024449279.1:c.120T>G	XP_024305047.1:p.Ala40=
NM_000020.3:c.909T>G MANE Select	NP_000011.2:p.Ala303=
NM_001077401.2:c.909T>G	NP_001070869.1:p.Ala303=