Canonical Allele Identifier: CA384902982
Gene: ACVRL1 HGNC NCBI

Linked Data

COSMIC: COSM3462128 COSM3462129
MyVariant Identifiers: chr12:g.52309989G>A (hg19) chr12:g.51916205G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916205G>A , CM000674.2:g.51916205G>A GRCh38
NC_000012.11:g.52309989G>A , CM000674.1:g.52309989G>A GRCh37
NC_000012.10:g.50596256G>A NCBI36
NG_009549.1:g.13788G>A , LRG_543:g.13788G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.948G>A ENSP00000446724.2:p.Trp316Ter
ENST00000551576.6:c.1218G>A ENSP00000455848.2:p.Trp406Ter
ENST00000552678.2:c.1218G>A ENSP00000457394.2:p.Trp406Ter
ENST00000388922.9:c.1218G>A MANE Select ENSP00000373574.4:p.Trp406Ter
ENST00000388922.8:c.1218G>A ENSP00000373574.4:p.Trp406Ter
ENST00000419526.6:c.696G>A ENSP00000392492.2:p.Trp232Ter
ENST00000547632.1:n.493G>A
ENST00000550683.5:c.1260G>A ENSP00000447884.1:p.Trp420Ter
ENST00000552678.1:c.223G>A
NM_000020.2:c.1218G>A , LRG_543t1:c.1218G>A NP_000011.2:p.Trp406Ter
NM_001077401.1:c.1218G>A NP_001070869.1:p.Trp406Ter
XM_005269235.2:c.1218G>A XP_005269292.1:p.Trp406Ter
XM_011539008.1:c.948G>A XP_011537310.1:p.Trp316Ter
XM_024449279.1:c.429G>A XP_024305047.1:p.Trp143Ter
NM_000020.3:c.1218G>A MANE Select NP_000011.2:p.Trp406Ter
NM_001077401.2:c.1218G>A NP_001070869.1:p.Trp406Ter
Search 100 bp 5'
Search 100 bp 3'