Canonical Allele Identifier: CA384905894
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 936241
ClinVar RCV Id: RCV001205003

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1459A>G MANE Select ENSP00000373574.4:p.Lys487Glu
ENST00000388922.8:c.1459A>G ENSP00000373574.4:p.Lys487Glu
ENST00000419526.6:c.937A>G ENSP00000392492.2:p.Lys313Glu
ENST00000550683.5:c.1501A>G ENSP00000447884.1:p.Lys501Glu
NM_000020.2:c.1459A>G , LRG_543t1:c.1459A>G NP_000011.2:p.Lys487Glu
NM_001077401.1:c.1459A>G NP_001070869.1:p.Lys487Glu
XM_005269235.2:c.1459A>G XP_005269292.1:p.Lys487Glu
XM_011539008.1:c.1189A>G XP_011537310.1:p.Lys397Glu
XM_024449279.1:c.670A>G XP_024305047.1:p.Lys224Glu
NM_000020.3:c.1459A>G MANE Select NP_000011.2:p.Lys487Glu
NM_001077401.2:c.1459A>G NP_001070869.1:p.Lys487Glu