Canonical Allele Identifier: CA384900084

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52308288T>C (hg19) ; chr12:g.51914504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914504T>C , CM000674.2:g.51914504T>C	GRCh38
NC_000012.11:g.52308288T>C , CM000674.1:g.52308288T>C	GRCh37
NC_000012.10:g.50594555T>C	NCBI36
NG_009549.1:g.12087T>C , LRG_543:g.12087T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.421T>C	ENSP00000446724.2:p.Phe141Leu
ENST00000551576.6:c.691T>C	ENSP00000455848.2:p.Phe231Leu
ENST00000552678.2:c.691T>C	ENSP00000457394.2:p.Phe231Leu
ENST00000388922.9:c.691T>C MANE Select	ENSP00000373574.4:p.Phe231Leu
ENST00000388922.8:c.691T>C	ENSP00000373574.4:p.Phe231Leu
ENST00000419526.6:c.169T>C	ENSP00000392492.2:p.Phe57Leu
ENST00000547400.5:c.421T>C	ENSP00000446724.1:p.Phe141Leu
ENST00000550683.5:c.733T>C	ENSP00000447884.1:p.Phe245Leu
NM_000020.2:c.691T>C , LRG_543t1:c.691T>C	NP_000011.2:p.Phe231Leu
NM_001077401.1:c.691T>C	NP_001070869.1:p.Phe231Leu
XM_005269235.2:c.691T>C	XP_005269292.1:p.Phe231Leu
XM_011539008.1:c.421T>C	XP_011537310.1:p.Phe141Leu
XM_024449279.1:c.-99T>C	XP_024305047.1:n.-99T>C
NM_000020.3:c.691T>C MANE Select	NP_000011.2:p.Phe231Leu
NM_001077401.2:c.691T>C	NP_001070869.1:p.Phe231Leu