Canonical Allele Identifier: CA479816317

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314560T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920776T>C , CM000674.2:g.51920776T>C	GRCh38
NC_000012.11:g.52314560T>C , CM000674.1:g.52314560T>C	GRCh37
NC_000012.10:g.50600827T>C	NCBI36
NG_009549.1:g.18359T>C , LRG_543:g.18359T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1125T>C	ENSP00000446724.2:p.Ala375=
ENST00000551576.6:c.1395T>C	ENSP00000455848.2:p.Ala465=
ENST00000388922.9:c.1395T>C MANE Select	ENSP00000373574.4:p.Ala465=
ENST00000388922.8:c.1395T>C	ENSP00000373574.4:p.Ala465=
ENST00000419526.6:c.873T>C	ENSP00000392492.2:p.Ala291=
ENST00000550683.5:c.1437T>C	ENSP00000447884.1:p.Ala479=
NM_000020.2:c.1395T>C , LRG_543t1:c.1395T>C	NP_000011.2:p.Ala465=
NM_001077401.1:c.1395T>C	NP_001070869.1:p.Ala465=
XM_005269235.2:c.1395T>C	XP_005269292.1:p.Ala465=
XM_011539008.1:c.1125T>C	XP_011537310.1:p.Ala375=
XM_024449279.1:c.606T>C	XP_024305047.1:p.Ala202=
NM_000020.3:c.1395T>C MANE Select	NP_000011.2:p.Ala465=
NM_001077401.2:c.1395T>C	NP_001070869.1:p.Ala465=