Canonical Allele Identifier: CA480063051
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52307031G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913247G>C , CM000674.2:g.51913247G>C GRCh38
NC_000012.11:g.52307031G>C , CM000674.1:g.52307031G>C GRCh37
NC_000012.10:g.50593298G>C NCBI36
NG_009549.1:g.10830G>C , LRG_543:g.10830G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.210G>C MANE Select ENSP00000373574.4:p.Gly70=
ENST00000388922.8:c.210G>C ENSP00000373574.4:p.Gly70=
ENST00000419526.6:c.103+712G>C ENSP00000392492.2:p.=
ENST00000547400.5:c.252G>C ENSP00000446724.1:p.Gly84=
ENST00000550683.5:c.252G>C ENSP00000447884.1:p.Gly84=
ENST00000551576.5:c.210G>C ENSP00000455848.1:p.Gly70=
NM_000020.2:c.210G>C , LRG_543t1:c.210G>C NP_000011.2:p.Gly70=
NM_001077401.1:c.210G>C NP_001070869.1:p.Gly70=
XM_005269235.2:c.210G>C XP_005269292.1:p.Gly70=
XM_011539008.1:c.252G>C XP_011537310.1:p.Gly84=
NM_000020.3:c.210G>C MANE Select NP_000011.2:p.Gly70=
NM_001077401.2:c.210G>C NP_001070869.1:p.Gly70=