Canonical Allele Identifier: CA384900474

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982488
• ClinVar RCV Id: RCV001262082
• dbSNP Id: rs750085854
• MyVariant Identifiers: chr12:g.52309066C>G (hg19) ; chr12:g.51915282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915282C>G , CM000674.2:g.51915282C>G	GRCh38
NC_000012.11:g.52309066C>G , CM000674.1:g.52309066C>G	GRCh37
NC_000012.10:g.50595333C>G	NCBI36
NG_009549.1:g.12865C>G , LRG_543:g.12865C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.560C>G	ENSP00000446724.2:p.Thr187Arg
ENST00000551576.6:c.830C>G	ENSP00000455848.2:p.Thr277Arg
ENST00000552678.2:c.830C>G	ENSP00000457394.2:p.Thr277Arg
ENST00000388922.9:c.830C>G MANE Select	ENSP00000373574.4:p.Thr277Arg
ENST00000388922.8:c.830C>G	ENSP00000373574.4:p.Thr277Arg
ENST00000419526.6:c.308C>G	ENSP00000392492.2:p.Thr103Arg
ENST00000550683.5:c.872C>G	ENSP00000447884.1:p.Thr291Arg
NM_000020.2:c.830C>G , LRG_543t1:c.830C>G	NP_000011.2:p.Thr277Arg
NM_001077401.1:c.830C>G	NP_001070869.1:p.Thr277Arg
XM_005269235.2:c.830C>G	XP_005269292.1:p.Thr277Arg
XM_011539008.1:c.560C>G	XP_011537310.1:p.Thr187Arg
XM_024449279.1:c.41C>G	XP_024305047.1:p.Thr14Arg
NM_000020.3:c.830C>G MANE Select	NP_000011.2:p.Thr277Arg
NM_001077401.2:c.830C>G	NP_001070869.1:p.Thr277Arg