Canonical Allele Identifier: CA384900509

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309075A>T (hg19) ; chr12:g.51915291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915291A>T , CM000674.2:g.51915291A>T	GRCh38
NC_000012.11:g.52309075A>T , CM000674.1:g.52309075A>T	GRCh37
NC_000012.10:g.50595342A>T	NCBI36
NG_009549.1:g.12874A>T , LRG_543:g.12874A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.569A>T	ENSP00000446724.2:p.His190Leu
ENST00000551576.6:c.839A>T	ENSP00000455848.2:p.His280Leu
ENST00000552678.2:c.839A>T	ENSP00000457394.2:p.His280Leu
ENST00000388922.9:c.839A>T MANE Select	ENSP00000373574.4:p.His280Leu
ENST00000388922.8:c.839A>T	ENSP00000373574.4:p.His280Leu
ENST00000419526.6:c.317A>T	ENSP00000392492.2:p.His106Leu
ENST00000550683.5:c.881A>T	ENSP00000447884.1:p.His294Leu
NM_000020.2:c.839A>T , LRG_543t1:c.839A>T	NP_000011.2:p.His280Leu
NM_001077401.1:c.839A>T	NP_001070869.1:p.His280Leu
XM_005269235.2:c.839A>T	XP_005269292.1:p.His280Leu
XM_011539008.1:c.569A>T	XP_011537310.1:p.His190Leu
XM_024449279.1:c.50A>T	XP_024305047.1:p.His17Leu
NM_000020.3:c.839A>T MANE Select	NP_000011.2:p.His280Leu
NM_001077401.2:c.839A>T	NP_001070869.1:p.His280Leu