Canonical Allele Identifier: CA119397
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8249
dbSNP Id: rs28936401

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916107C>T , CM000674.2:g.51916107C>T GRCh38
NC_000012.11:g.52309891C>T , CM000674.1:g.52309891C>T GRCh37
NC_000012.10:g.50596158C>T NCBI36
NG_009549.1:g.13690C>T , LRG_543:g.13690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.850C>T ENSP00000446724.2:p.Arg284Trp
ENST00000551576.6:c.1120C>T ENSP00000455848.2:p.Arg374Trp
ENST00000552678.2:c.1120C>T ENSP00000457394.2:p.Arg374Trp
ENST00000388922.9:c.1120C>T MANE Select ENSP00000373574.4:p.Arg374Trp
ENST00000388922.8:c.1120C>T ENSP00000373574.4:p.Arg374Trp
ENST00000419526.6:c.598C>T ENSP00000392492.2:p.Arg200Trp
ENST00000547632.1:n.395C>T
ENST00000550683.5:c.1162C>T ENSP00000447884.1:p.Arg388Trp
ENST00000552678.1:c.125C>T
NM_000020.2:c.1120C>T , LRG_543t1:c.1120C>T NP_000011.2:p.Arg374Trp
NM_001077401.1:c.1120C>T NP_001070869.1:p.Arg374Trp
XM_005269235.2:c.1120C>T XP_005269292.1:p.Arg374Trp
XM_011539008.1:c.850C>T XP_011537310.1:p.Arg284Trp
XM_024449279.1:c.331C>T XP_024305047.1:p.Arg111Trp
NM_000020.3:c.1120C>T MANE Select NP_000011.2:p.Arg374Trp
NM_001077401.2:c.1120C>T NP_001070869.1:p.Arg374Trp