Canonical Allele Identifier: CA384900068

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52308282A>C (hg19) ; chr12:g.51914498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914498A>C , CM000674.2:g.51914498A>C	GRCh38
NC_000012.11:g.52308282A>C , CM000674.1:g.52308282A>C	GRCh37
NC_000012.10:g.50594549A>C	NCBI36
NG_009549.1:g.12081A>C , LRG_543:g.12081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.415A>C	ENSP00000446724.2:p.Lys139Gln
ENST00000551576.6:c.685A>C	ENSP00000455848.2:p.Lys229Gln
ENST00000552678.2:c.685A>C	ENSP00000457394.2:p.Lys229Gln
ENST00000388922.9:c.685A>C MANE Select	ENSP00000373574.4:p.Lys229Gln
ENST00000388922.8:c.685A>C	ENSP00000373574.4:p.Lys229Gln
ENST00000419526.6:c.163A>C	ENSP00000392492.2:p.Lys55Gln
ENST00000547400.5:c.415A>C	ENSP00000446724.1:p.Lys139Gln
ENST00000550683.5:c.727A>C	ENSP00000447884.1:p.Lys243Gln
NM_000020.2:c.685A>C , LRG_543t1:c.685A>C	NP_000011.2:p.Lys229Gln
NM_001077401.1:c.685A>C	NP_001070869.1:p.Lys229Gln
XM_005269235.2:c.685A>C	XP_005269292.1:p.Lys229Gln
XM_011539008.1:c.415A>C	XP_011537310.1:p.Lys139Gln
XM_024449279.1:c.-105A>C	XP_024305047.1:n.-105A>C
NM_000020.3:c.685A>C MANE Select	NP_000011.2:p.Lys229Gln
NM_001077401.2:c.685A>C	NP_001070869.1:p.Lys229Gln