Canonical Allele Identifier: CA384899909
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51914066G>C , CM000674.2:g.51914066G>C GRCh38
NC_000012.11:g.52307850G>C , CM000674.1:g.52307850G>C GRCh37
NC_000012.10:g.50594117G>C NCBI36
NG_009549.1:g.11649G>C , LRG_543:g.11649G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.356-373G>C ENSP00000446724.2:n.356-373G>C
ENST00000551576.6:c.618G>C ENSP00000455848.2:p.Glu206Asp
ENST00000552678.2:c.618G>C ENSP00000457394.2:p.Glu206Asp
ENST00000388922.9:c.618G>C MANE Select ENSP00000373574.4:p.Glu206Asp
ENST00000388922.8:c.618G>C ENSP00000373574.4:p.Glu206Asp
ENST00000419526.6:c.104-373G>C ENSP00000392492.2:n.104-373G>C
ENST00000547400.5:c.356-373G>C ENSP00000446724.1:n.356-373G>C
ENST00000550683.5:c.660G>C ENSP00000447884.1:p.Glu220Asp
NM_000020.2:c.618G>C , LRG_543t1:c.618G>C NP_000011.2:p.Glu206Asp
NM_001077401.1:c.618G>C NP_001070869.1:p.Glu206Asp
XM_005269235.2:c.618G>C XP_005269292.1:p.Glu206Asp
XM_011539008.1:c.356-373G>C XP_011537310.1:n.356-373G>C
XM_024449279.1:c.-165+296G>C XP_024305047.1:n.-165+296G>C
NM_000020.3:c.618G>C MANE Select NP_000011.2:p.Glu206Asp
NM_001077401.2:c.618G>C NP_001070869.1:p.Glu206Asp