Canonical Allele Identifier: CA119402
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8251
dbSNP Id: rs121909287

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916218C>T , CM000674.2:g.51916218C>T GRCh38
NC_000012.11:g.52310002C>T , CM000674.1:g.52310002C>T GRCh37
NC_000012.10:g.50596269C>T NCBI36
NG_009549.1:g.13801C>T , LRG_543:g.13801C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1231C>T MANE Select ENSP00000373574.4:p.Arg411Trp
ENST00000388922.8:c.1231C>T ENSP00000373574.4:p.Arg411Trp
ENST00000419526.6:c.709C>T ENSP00000392492.2:p.Arg237Trp
ENST00000547632.1:n.506C>T
ENST00000550683.5:c.1273C>T ENSP00000447884.1:p.Arg425Trp
ENST00000552678.1:n.236C>T
NM_000020.2:c.1231C>T , LRG_543t1:c.1231C>T NP_000011.2:p.Arg411Trp
NM_001077401.1:c.1231C>T NP_001070869.1:p.Arg411Trp
XM_005269235.2:c.1231C>T XP_005269292.1:p.Arg411Trp
XM_011539008.1:c.961C>T XP_011537310.1:p.Arg321Trp
XM_024449279.1:c.442C>T XP_024305047.1:p.Arg148Trp
NM_000020.3:c.1231C>T MANE Select NP_000011.2:p.Arg411Trp
NM_001077401.2:c.1231C>T NP_001070869.1:p.Arg411Trp