Canonical Allele Identifier: CA479808058

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51914542-T-C
• MyVariant Identifiers: chr12:g.52308326T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914542T>C , CM000674.2:g.51914542T>C	GRCh38
NC_000012.11:g.52308326T>C , CM000674.1:g.52308326T>C	GRCh37
NC_000012.10:g.50594593T>C	NCBI36
NG_009549.1:g.12125T>C , LRG_543:g.12125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.459T>C	ENSP00000446724.2:p.Thr153=
ENST00000551576.6:c.729T>C	ENSP00000455848.2:p.Thr243=
ENST00000552678.2:c.729T>C	ENSP00000457394.2:p.Thr243=
ENST00000388922.9:c.729T>C MANE Select	ENSP00000373574.4:p.Thr243=
ENST00000388922.8:c.729T>C	ENSP00000373574.4:p.Thr243=
ENST00000419526.6:c.207T>C	ENSP00000392492.2:p.Thr69=
ENST00000547400.5:c.459T>C	ENSP00000446724.1:p.Thr153=
ENST00000550683.5:c.771T>C	ENSP00000447884.1:p.Thr257=
NM_000020.2:c.729T>C , LRG_543t1:c.729T>C	NP_000011.2:p.Thr243=
NM_001077401.1:c.729T>C	NP_001070869.1:p.Thr243=
XM_005269235.2:c.729T>C	XP_005269292.1:p.Thr243=
XM_011539008.1:c.459T>C	XP_011537310.1:p.Thr153=
XM_024449279.1:c.-61T>C	XP_024305047.1:n.-61T>C
NM_000020.3:c.729T>C MANE Select	NP_000011.2:p.Thr243=
NM_001077401.2:c.729T>C	NP_001070869.1:p.Thr243=