Canonical Allele Identifier: CA384899248
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913752G>C , CM000674.2:g.51913752G>C GRCh38
NC_000012.11:g.52307536G>C , CM000674.1:g.52307536G>C GRCh37
NC_000012.10:g.50593803G>C NCBI36
NG_009549.1:g.11335G>C , LRG_543:g.11335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.355+402G>C ENSP00000446724.2:n.355+402G>C
ENST00000551576.6:c.507G>C ENSP00000455848.2:p.Gln169His
ENST00000552678.2:c.507G>C ENSP00000457394.2:p.Gln169His
ENST00000388922.9:c.507G>C MANE Select ENSP00000373574.4:p.Gln169His
ENST00000388922.8:c.507G>C ENSP00000373574.4:p.Gln169His
ENST00000419526.6:c.104-687G>C ENSP00000392492.2:n.104-687G>C
ENST00000547400.5:c.355+402G>C ENSP00000446724.1:n.355+402G>C
ENST00000550683.5:c.549G>C ENSP00000447884.1:p.Gln183His
NM_000020.2:c.507G>C , LRG_543t1:c.507G>C NP_000011.2:p.Gln169His
NM_001077401.1:c.507G>C NP_001070869.1:p.Gln169His
XM_005269235.2:c.507G>C XP_005269292.1:p.Gln169His
XM_011539008.1:c.355+402G>C XP_011537310.1:n.355+402G>C
XM_024449279.1:c.-183G>C XP_024305047.1:n.-183G>C
NM_000020.3:c.507G>C MANE Select NP_000011.2:p.Gln169His
NM_001077401.2:c.507G>C NP_001070869.1:p.Gln169His