Canonical Allele Identifier: CA384897852
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913221C>T , CM000674.2:g.51913221C>T GRCh38
NC_000012.11:g.52307005C>T , CM000674.1:g.52307005C>T GRCh37
NC_000012.10:g.50593272C>T NCBI36
NG_009549.1:g.10804C>T , LRG_543:g.10804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.226C>T ENSP00000446724.2:p.His76Tyr
ENST00000551576.6:c.184C>T ENSP00000455848.2:p.His62Tyr
ENST00000552678.2:c.184C>T ENSP00000457394.2:p.His62Tyr
ENST00000388922.9:c.184C>T MANE Select ENSP00000373574.4:p.His62Tyr
ENST00000388922.8:c.184C>T ENSP00000373574.4:p.His62Tyr
ENST00000419526.6:c.103+686C>T ENSP00000392492.2:n.103+686C>T
ENST00000547400.5:c.226C>T ENSP00000446724.1:p.His76Tyr
ENST00000550683.5:c.226C>T ENSP00000447884.1:p.His76Tyr
ENST00000551576.5:c.184C>T ENSP00000455848.1:p.His62Tyr
NM_000020.2:c.184C>T , LRG_543t1:c.184C>T NP_000011.2:p.His62Tyr
NM_001077401.1:c.184C>T NP_001070869.1:p.His62Tyr
XM_005269235.2:c.184C>T XP_005269292.1:p.His62Tyr
XM_011539008.1:c.226C>T XP_011537310.1:p.His76Tyr
NM_000020.3:c.184C>T MANE Select NP_000011.2:p.His62Tyr
NM_001077401.2:c.184C>T NP_001070869.1:p.His62Tyr