Canonical Allele Identifier: CA384905687

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920817G>C , CM000674.2:g.51920817G>C	GRCh38
NC_000012.11:g.52314601G>C , CM000674.1:g.52314601G>C	GRCh37
NC_000012.10:g.50600868G>C	NCBI36
NG_009549.1:g.18400G>C , LRG_543:g.18400G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1436G>C MANE Select	NP_000011.2:p.Arg479Pro
ENST00000388922.9:c.1436G>C MANE Select	ENSP00000373574.4:p.Arg479Pro
NM_000020.2:c.1436G>C , LRG_543t1:c.1436G>C	NP_000011.2:p.Arg479Pro
NM_001077401.1:c.1436G>C	NP_001070869.1:p.Arg479Pro
NM_001077401.2:c.1436G>C	NP_001070869.1:p.Arg479Pro
ENST00000388922.8:c.1436G>C	ENSP00000373574.4:p.Arg479Pro
ENST00000419526.6:c.914G>C	ENSP00000392492.2:p.Arg305Pro
ENST00000547400.6:c.1166G>C	ENSP00000446724.2:p.Arg389Pro
ENST00000550683.5:c.1478G>C	ENSP00000447884.1:p.Arg493Pro
ENST00000551576.6:c.1436G>C	ENSP00000455848.2:p.Arg479Pro
XM_005269235.2:c.1436G>C	XP_005269292.1:p.Arg479Pro
XM_011539008.1:c.1166G>C	XP_011537310.1:p.Arg389Pro
XM_024449279.1:c.647G>C	XP_024305047.1:p.Arg216Pro