Canonical Allele Identifier: CA384901187

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309178C>G (hg19) ; chr12:g.51915394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915394C>G , CM000674.2:g.51915394C>G	GRCh38
NC_000012.11:g.52309178C>G , CM000674.1:g.52309178C>G	GRCh37
NC_000012.10:g.50595445C>G	NCBI36
NG_009549.1:g.12977C>G , LRG_543:g.12977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.672C>G	ENSP00000446724.2:p.His224Gln
ENST00000551576.6:c.942C>G	ENSP00000455848.2:p.His314Gln
ENST00000552678.2:c.942C>G	ENSP00000457394.2:p.His314Gln
ENST00000388922.9:c.942C>G MANE Select	ENSP00000373574.4:p.His314Gln
ENST00000388922.8:c.942C>G	ENSP00000373574.4:p.His314Gln
ENST00000419526.6:c.420C>G	ENSP00000392492.2:p.His140Gln
ENST00000550683.5:c.984C>G	ENSP00000447884.1:p.His328Gln
NM_000020.2:c.942C>G , LRG_543t1:c.942C>G	NP_000011.2:p.His314Gln
NM_001077401.1:c.942C>G	NP_001070869.1:p.His314Gln
XM_005269235.2:c.942C>G	XP_005269292.1:p.His314Gln
XM_011539008.1:c.672C>G	XP_011537310.1:p.His224Gln
XM_024449279.1:c.153C>G	XP_024305047.1:p.His51Gln
NM_000020.3:c.942C>G MANE Select	NP_000011.2:p.His314Gln
NM_001077401.2:c.942C>G	NP_001070869.1:p.His314Gln