Canonical Allele Identifier: CA384901292
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915408G>C , CM000674.2:g.51915408G>C GRCh38
NC_000012.11:g.52309192G>C , CM000674.1:g.52309192G>C GRCh37
NC_000012.10:g.50595459G>C NCBI36
NG_009549.1:g.12991G>C , LRG_543:g.12991G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.686G>C ENSP00000446724.2:p.Gly229Ala
ENST00000551576.6:c.956G>C ENSP00000455848.2:p.Gly319Ala
ENST00000552678.2:c.956G>C ENSP00000457394.2:p.Gly319Ala
ENST00000388922.9:c.956G>C MANE Select ENSP00000373574.4:p.Gly319Ala
ENST00000388922.8:c.956G>C ENSP00000373574.4:p.Gly319Ala
ENST00000419526.6:c.434G>C ENSP00000392492.2:p.Gly145Ala
ENST00000550683.5:c.998G>C ENSP00000447884.1:p.Gly333Ala
NM_000020.2:c.956G>C , LRG_543t1:c.956G>C NP_000011.2:p.Gly319Ala
NM_001077401.1:c.956G>C NP_001070869.1:p.Gly319Ala
XM_005269235.2:c.956G>C XP_005269292.1:p.Gly319Ala
XM_011539008.1:c.686G>C XP_011537310.1:p.Gly229Ala
XM_024449279.1:c.167G>C XP_024305047.1:p.Gly56Ala
NM_000020.3:c.956G>C MANE Select NP_000011.2:p.Gly319Ala
NM_001077401.2:c.956G>C NP_001070869.1:p.Gly319Ala