Canonical Allele Identifier: CA384906271

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314658A>C (hg19) ; chr12:g.51920874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920874A>C , CM000674.2:g.51920874A>C	GRCh38
NC_000012.11:g.52314658A>C , CM000674.1:g.52314658A>C	GRCh37
NC_000012.10:g.50600925A>C	NCBI36
NG_009549.1:g.18457A>C , LRG_543:g.18457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1223A>C	ENSP00000446724.2:p.Lys408Thr
ENST00000551576.6:c.1493A>C	ENSP00000455848.2:p.Lys498Thr
ENST00000388922.9:c.1493A>C MANE Select	ENSP00000373574.4:p.Lys498Thr
ENST00000388922.8:c.1493A>C	ENSP00000373574.4:p.Lys498Thr
ENST00000419526.6:c.971A>C	ENSP00000392492.2:p.Lys324Thr
ENST00000550683.5:c.1535A>C	ENSP00000447884.1:p.Lys512Thr
NM_000020.2:c.1493A>C , LRG_543t1:c.1493A>C	NP_000011.2:p.Lys498Thr
NM_001077401.1:c.1493A>C	NP_001070869.1:p.Lys498Thr
XM_005269235.2:c.1493A>C	XP_005269292.1:p.Lys498Thr
XM_011539008.1:c.1223A>C	XP_011537310.1:p.Lys408Thr
XM_024449279.1:c.704A>C	XP_024305047.1:p.Lys235Thr
NM_000020.3:c.1493A>C MANE Select	NP_000011.2:p.Lys498Thr
NM_001077401.2:c.1493A>C	NP_001070869.1:p.Lys498Thr