Canonical Allele Identifier: CA480063163

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309067G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915283G>C , CM000674.2:g.51915283G>C	GRCh38
NC_000012.11:g.52309067G>C , CM000674.1:g.52309067G>C	GRCh37
NC_000012.10:g.50595334G>C	NCBI36
NG_009549.1:g.12866G>C , LRG_543:g.12866G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.561G>C	ENSP00000446724.2:p.Thr187=
ENST00000551576.6:c.831G>C	ENSP00000455848.2:p.Thr277=
ENST00000552678.2:c.831G>C	ENSP00000457394.2:p.Thr277=
ENST00000388922.9:c.831G>C MANE Select	ENSP00000373574.4:p.Thr277=
ENST00000388922.8:c.831G>C	ENSP00000373574.4:p.Thr277=
ENST00000419526.6:c.309G>C	ENSP00000392492.2:p.Thr103=
ENST00000550683.5:c.873G>C	ENSP00000447884.1:p.Thr291=
NM_000020.2:c.831G>C , LRG_543t1:c.831G>C	NP_000011.2:p.Thr277=
NM_001077401.1:c.831G>C	NP_001070869.1:p.Thr277=
XM_005269235.2:c.831G>C	XP_005269292.1:p.Thr277=
XM_011539008.1:c.561G>C	XP_011537310.1:p.Thr187=
XM_024449279.1:c.42G>C	XP_024305047.1:p.Thr14=
NM_000020.3:c.831G>C MANE Select	NP_000011.2:p.Thr277=
NM_001077401.2:c.831G>C	NP_001070869.1:p.Thr277=