Canonical Allele Identifier: CA384905895
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920840A>T , CM000674.2:g.51920840A>T GRCh38
NC_000012.11:g.52314624A>T , CM000674.1:g.52314624A>T GRCh37
NC_000012.10:g.50600891A>T NCBI36
NG_009549.1:g.18423A>T , LRG_543:g.18423A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1459A>T MANE Select ENSP00000373574.4:p.Lys487Ter
ENST00000388922.8:c.1459A>T ENSP00000373574.4:p.Lys487Ter
ENST00000419526.6:c.937A>T ENSP00000392492.2:p.Lys313Ter
ENST00000550683.5:c.1501A>T ENSP00000447884.1:p.Lys501Ter
NM_000020.2:c.1459A>T , LRG_543t1:c.1459A>T NP_000011.2:p.Lys487Ter
NM_001077401.1:c.1459A>T NP_001070869.1:p.Lys487Ter
XM_005269235.2:c.1459A>T XP_005269292.1:p.Lys487Ter
XM_011539008.1:c.1189A>T XP_011537310.1:p.Lys397Ter
XM_024449279.1:c.670A>T XP_024305047.1:p.Lys224Ter
NM_000020.3:c.1459A>T MANE Select NP_000011.2:p.Lys487Ter
NM_001077401.2:c.1459A>T NP_001070869.1:p.Lys487Ter