Canonical Allele Identifier: CA384903799
Gene: ACVRL1 HGNC NCBI

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
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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
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