Canonical Allele Identifier: CA384898096
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913328C>A , CM000674.2:g.51913328C>A GRCh38
NC_000012.11:g.52307112C>A , CM000674.1:g.52307112C>A GRCh37
NC_000012.10:g.50593379C>A NCBI36
NG_009549.1:g.10911C>A , LRG_543:g.10911C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.333C>A ENSP00000446724.2:p.His111Gln
ENST00000551576.6:c.291C>A ENSP00000455848.2:p.His97Gln
ENST00000552678.2:c.291C>A ENSP00000457394.2:p.His97Gln
ENST00000388922.9:c.291C>A MANE Select ENSP00000373574.4:p.His97Gln
ENST00000388922.8:c.291C>A ENSP00000373574.4:p.His97Gln
ENST00000419526.6:c.103+793C>A ENSP00000392492.2:n.103+793C>A
ENST00000547400.5:c.333C>A ENSP00000446724.1:p.His111Gln
ENST00000550683.5:c.333C>A ENSP00000447884.1:p.His111Gln
NM_000020.2:c.291C>A , LRG_543t1:c.291C>A NP_000011.2:p.His97Gln
NM_001077401.1:c.291C>A NP_001070869.1:p.His97Gln
XM_005269235.2:c.291C>A XP_005269292.1:p.His97Gln
XM_011539008.1:c.333C>A XP_011537310.1:p.His111Gln
XM_024449279.1:c.-399C>A XP_024305047.1:n.-399C>A
NM_000020.3:c.291C>A MANE Select NP_000011.2:p.His97Gln
NM_001077401.2:c.291C>A NP_001070869.1:p.His97Gln