Canonical Allele Identifier: CA384901718

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915479C>G , CM000674.2:g.51915479C>G	GRCh38
NC_000012.11:g.52309263C>G , CM000674.1:g.52309263C>G	GRCh37
NC_000012.10:g.50595530C>G	NCBI36
NG_009549.1:g.13062C>G , LRG_543:g.13062C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1027C>G MANE Select	NP_000011.2:p.Gln343Glu
ENST00000388922.9:c.1027C>G MANE Select	ENSP00000373574.4:p.Gln343Glu
NM_000020.2:c.1027C>G , LRG_543t1:c.1027C>G	NP_000011.2:p.Gln343Glu
NM_001077401.1:c.1027C>G	NP_001070869.1:p.Gln343Glu
NM_001077401.2:c.1027C>G	NP_001070869.1:p.Gln343Glu
ENST00000388922.8:c.1027C>G	ENSP00000373574.4:p.Gln343Glu
ENST00000419526.6:c.505C>G	ENSP00000392492.2:p.Gln169Glu
ENST00000547400.6:c.757C>G	ENSP00000446724.2:p.Gln253Glu
ENST00000550683.5:c.1069C>G	ENSP00000447884.1:p.Gln357Glu
ENST00000551576.6:c.1027C>G	ENSP00000455848.2:p.Gln343Glu
ENST00000552678.1:c.32C>G
ENST00000552678.2:c.1027C>G	ENSP00000457394.2:p.Gln343Glu
XM_005269235.2:c.1027C>G	XP_005269292.1:p.Gln343Glu
XM_011539008.1:c.757C>G	XP_011537310.1:p.Gln253Glu
XM_024449279.1:c.238C>G	XP_024305047.1:p.Gln80Glu