Canonical Allele Identifier: CA384900562
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426018
dbSNP Id: rs1085307410

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915305C>T , CM000674.2:g.51915305C>T GRCh38
NC_000012.11:g.52309089C>T , CM000674.1:g.52309089C>T GRCh37
NC_000012.10:g.50595356C>T NCBI36
NG_009549.1:g.12888C>T , LRG_543:g.12888C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.583C>T ENSP00000446724.2:p.Leu195Phe
ENST00000551576.6:c.853C>T ENSP00000455848.2:p.Leu285Phe
ENST00000552678.2:c.853C>T ENSP00000457394.2:p.Leu285Phe
ENST00000388922.9:c.853C>T MANE Select ENSP00000373574.4:p.Leu285Phe
ENST00000388922.8:c.853C>T ENSP00000373574.4:p.Leu285Phe
ENST00000419526.6:c.331C>T ENSP00000392492.2:p.Leu111Phe
ENST00000550683.5:c.895C>T ENSP00000447884.1:p.Leu299Phe
NM_000020.2:c.853C>T , LRG_543t1:c.853C>T NP_000011.2:p.Leu285Phe
NM_001077401.1:c.853C>T NP_001070869.1:p.Leu285Phe
XM_005269235.2:c.853C>T XP_005269292.1:p.Leu285Phe
XM_011539008.1:c.583C>T XP_011537310.1:p.Leu195Phe
XM_024449279.1:c.64C>T XP_024305047.1:p.Leu22Phe
NM_000020.3:c.853C>T MANE Select NP_000011.2:p.Leu285Phe
NM_001077401.2:c.853C>T NP_001070869.1:p.Leu285Phe