Canonical Allele Identifier: CA384903799

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426029
• ClinVar RCV Id: RCV000488738
• dbSNP Id: rs1085307420
• MyVariant Identifiers: chr12:g.52312802A>T (hg19) ; chr12:g.51919018A>T (hg38)
• PubMed: PMID:20056902 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919018A>T , CM000674.2:g.51919018A>T	GRCh38
NC_000012.11:g.52312802A>T , CM000674.1:g.52312802A>T	GRCh37
NC_000012.10:g.50599069A>T	NCBI36
NG_009549.1:g.16601A>T , LRG_543:g.16601A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1010A>T	ENSP00000446724.2:p.Asp337Val
ENST00000551576.6:c.1280A>T	ENSP00000455848.2:p.Asp427Val
ENST00000552678.2:c.1280A>T	ENSP00000457394.2:p.Asp427Val
ENST00000388922.9:c.1280A>T MANE Select	ENSP00000373574.4:p.Asp427Val
ENST00000388922.8:c.1280A>T	ENSP00000373574.4:p.Asp427Val
ENST00000419526.6:c.758A>T	ENSP00000392492.2:p.Asp253Val
ENST00000547632.1:n.555A>T
ENST00000550683.5:c.1322A>T	ENSP00000447884.1:p.Asp441Val
ENST00000552678.1:c.285A>T
NM_000020.2:c.1280A>T , LRG_543t1:c.1280A>T	NP_000011.2:p.Asp427Val
NM_001077401.1:c.1280A>T	NP_001070869.1:p.Asp427Val
XM_005269235.2:c.1280A>T	XP_005269292.1:p.Asp427Val
XM_011539008.1:c.1010A>T	XP_011537310.1:p.Asp337Val
XM_024449279.1:c.491A>T	XP_024305047.1:p.Asp164Val
NM_000020.3:c.1280A>T MANE Select	NP_000011.2:p.Asp427Val
NM_001077401.2:c.1280A>T	NP_001070869.1:p.Asp427Val