Canonical Allele Identifier: CA479810650

Gene: ACVRL1

Linked Data

• dbSNP Id: rs147021958
• MyVariant Identifiers: chr12:g.52309905C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916121C>G , CM000674.2:g.51916121C>G	GRCh38
NC_000012.11:g.52309905C>G , CM000674.1:g.52309905C>G	GRCh37
NC_000012.10:g.50596172C>G	NCBI36
NG_009549.1:g.13704C>G , LRG_543:g.13704C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.864C>G	ENSP00000446724.2:p.Pro288=
ENST00000551576.6:c.1134C>G	ENSP00000455848.2:p.Pro378=
ENST00000552678.2:c.1134C>G	ENSP00000457394.2:p.Pro378=
ENST00000388922.9:c.1134C>G MANE Select	ENSP00000373574.4:p.Pro378=
ENST00000388922.8:c.1134C>G	ENSP00000373574.4:p.Pro378=
ENST00000419526.6:c.612C>G	ENSP00000392492.2:p.Pro204=
ENST00000547632.1:n.409C>G
ENST00000550683.5:c.1176C>G	ENSP00000447884.1:p.Pro392=
ENST00000552678.1:c.139C>G
NM_000020.2:c.1134C>G , LRG_543t1:c.1134C>G	NP_000011.2:p.Pro378=
NM_001077401.1:c.1134C>G	NP_001070869.1:p.Pro378=
XM_005269235.2:c.1134C>G	XP_005269292.1:p.Pro378=
XM_011539008.1:c.864C>G	XP_011537310.1:p.Pro288=
XM_024449279.1:c.345C>G	XP_024305047.1:p.Pro115=
NM_000020.3:c.1134C>G MANE Select	NP_000011.2:p.Pro378=
NM_001077401.2:c.1134C>G	NP_001070869.1:p.Pro378=