Canonical Allele Identifier: CA480063204

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1765465
• ClinVar RCV Id: RCV002376388
• MyVariant Identifiers: chr12:g.52309136G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915352G>A , CM000674.2:g.51915352G>A	GRCh38
NC_000012.11:g.52309136G>A , CM000674.1:g.52309136G>A	GRCh37
NC_000012.10:g.50595403G>A	NCBI36
NG_009549.1:g.12935G>A , LRG_543:g.12935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.630G>A	ENSP00000446724.2:p.Leu210=
ENST00000551576.6:c.900G>A	ENSP00000455848.2:p.Leu300=
ENST00000552678.2:c.900G>A	ENSP00000457394.2:p.Leu300=
ENST00000388922.9:c.900G>A MANE Select	ENSP00000373574.4:p.Leu300=
ENST00000388922.8:c.900G>A	ENSP00000373574.4:p.Leu300=
ENST00000419526.6:c.378G>A	ENSP00000392492.2:p.Leu126=
ENST00000550683.5:c.942G>A	ENSP00000447884.1:p.Leu314=
NM_000020.2:c.900G>A , LRG_543t1:c.900G>A	NP_000011.2:p.Leu300=
NM_001077401.1:c.900G>A	NP_001070869.1:p.Leu300=
XM_005269235.2:c.900G>A	XP_005269292.1:p.Leu300=
XM_011539008.1:c.630G>A	XP_011537310.1:p.Leu210=
XM_024449279.1:c.111G>A	XP_024305047.1:p.Leu37=
NM_000020.3:c.900G>A MANE Select	NP_000011.2:p.Leu300=
NM_001077401.2:c.900G>A	NP_001070869.1:p.Leu300=