Canonical Allele Identifier: CA384902407

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916108G>C , CM000674.2:g.51916108G>C	GRCh38
NC_000012.11:g.52309892G>C , CM000674.1:g.52309892G>C	GRCh37
NC_000012.10:g.50596159G>C	NCBI36
NG_009549.1:g.13691G>C , LRG_543:g.13691G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1121G>C MANE Select	NP_000011.2:p.Arg374Pro
ENST00000388922.9:c.1121G>C MANE Select	ENSP00000373574.4:p.Arg374Pro
NM_000020.2:c.1121G>C , LRG_543t1:c.1121G>C	NP_000011.2:p.Arg374Pro
NM_001077401.1:c.1121G>C	NP_001070869.1:p.Arg374Pro
NM_001077401.2:c.1121G>C	NP_001070869.1:p.Arg374Pro
ENST00000388922.8:c.1121G>C	ENSP00000373574.4:p.Arg374Pro
ENST00000419526.6:c.599G>C	ENSP00000392492.2:p.Arg200Pro
ENST00000547400.6:c.851G>C	ENSP00000446724.2:p.Arg284Pro
ENST00000547632.1:n.396G>C
ENST00000550683.5:c.1163G>C	ENSP00000447884.1:p.Arg388Pro
ENST00000551576.6:c.1121G>C	ENSP00000455848.2:p.Arg374Pro
ENST00000552678.1:c.126G>C
ENST00000552678.2:c.1121G>C	ENSP00000457394.2:p.Arg374Pro
XM_005269235.2:c.1121G>C	XP_005269292.1:p.Arg374Pro
XM_011539008.1:c.851G>C	XP_011537310.1:p.Arg284Pro
XM_024449279.1:c.332G>C	XP_024305047.1:p.Arg111Pro