Canonical Allele Identifier: CA384902555
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426025
ClinVar RCV Id: RCV000488581 RCV001851300
dbSNP Id: rs1085307417
MyVariant Identifiers: chr12:g.52309913T>C (hg19) chr12:g.51916129T>C (hg38)
PubMed: PMID:18159113 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916129T>C , CM000674.2:g.51916129T>C GRCh38
NC_000012.11:g.52309913T>C , CM000674.1:g.52309913T>C GRCh37
NC_000012.10:g.50596180T>C NCBI36
NG_009549.1:g.13712T>C , LRG_543:g.13712T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.872T>C ENSP00000446724.2:p.Leu291Pro
ENST00000551576.6:c.1142T>C ENSP00000455848.2:p.Leu381Pro
ENST00000552678.2:c.1142T>C ENSP00000457394.2:p.Leu381Pro
ENST00000388922.9:c.1142T>C MANE Select ENSP00000373574.4:p.Leu381Pro
ENST00000388922.8:c.1142T>C ENSP00000373574.4:p.Leu381Pro
ENST00000419526.6:c.620T>C ENSP00000392492.2:p.Leu207Pro
ENST00000547632.1:n.417T>C
ENST00000550683.5:c.1184T>C ENSP00000447884.1:p.Leu395Pro
ENST00000552678.1:c.147T>C
NM_000020.2:c.1142T>C , LRG_543t1:c.1142T>C NP_000011.2:p.Leu381Pro
NM_001077401.1:c.1142T>C NP_001070869.1:p.Leu381Pro
XM_005269235.2:c.1142T>C XP_005269292.1:p.Leu381Pro
XM_011539008.1:c.872T>C XP_011537310.1:p.Leu291Pro
XM_024449279.1:c.353T>C XP_024305047.1:p.Leu118Pro
NM_000020.3:c.1142T>C MANE Select NP_000011.2:p.Leu381Pro
NM_001077401.2:c.1142T>C NP_001070869.1:p.Leu381Pro
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