Canonical Allele Identifier: CA384902182
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916074G>A , CM000674.2:g.51916074G>A GRCh38
NC_000012.11:g.52309858G>A , CM000674.1:g.52309858G>A GRCh37
NC_000012.10:g.50596125G>A NCBI36
NG_009549.1:g.13657G>A , LRG_543:g.13657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.817G>A ENSP00000446724.2:p.Asp273Asn
ENST00000551576.6:c.1087G>A ENSP00000455848.2:p.Asp363Asn
ENST00000552678.2:c.1087G>A ENSP00000457394.2:p.Asp363Asn
ENST00000388922.9:c.1087G>A MANE Select ENSP00000373574.4:p.Asp363Asn
ENST00000388922.8:c.1087G>A ENSP00000373574.4:p.Asp363Asn
ENST00000419526.6:c.565G>A ENSP00000392492.2:p.Asp189Asn
ENST00000547632.1:n.362G>A
ENST00000550683.5:c.1129G>A ENSP00000447884.1:p.Asp377Asn
ENST00000552678.1:c.92G>A
NM_000020.2:c.1087G>A , LRG_543t1:c.1087G>A NP_000011.2:p.Asp363Asn
NM_001077401.1:c.1087G>A NP_001070869.1:p.Asp363Asn
XM_005269235.2:c.1087G>A XP_005269292.1:p.Asp363Asn
XM_011539008.1:c.817G>A XP_011537310.1:p.Asp273Asn
XM_024449279.1:c.298G>A XP_024305047.1:p.Asp100Asn
NM_000020.3:c.1087G>A MANE Select NP_000011.2:p.Asp363Asn
NM_001077401.2:c.1087G>A NP_001070869.1:p.Asp363Asn