Canonical Allele Identifier: CA479805079

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2624860
• ClinVar RCV Id: RCV003387081
• MyVariant Identifiers: chr12:g.52307485C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913701C>T , CM000674.2:g.51913701C>T	GRCh38
NC_000012.11:g.52307485C>T , CM000674.1:g.52307485C>T	GRCh37
NC_000012.10:g.50593752C>T	NCBI36
NG_009549.1:g.11284C>T , LRG_543:g.11284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+351C>T	ENSP00000446724.2:n.355+351C>T
ENST00000551576.6:c.456C>T	ENSP00000455848.2:p.Gly152=
ENST00000552678.2:c.456C>T	ENSP00000457394.2:p.Gly152=
ENST00000388922.9:c.456C>T MANE Select	ENSP00000373574.4:p.Gly152=
ENST00000388922.8:c.456C>T	ENSP00000373574.4:p.Gly152=
ENST00000419526.6:c.104-738C>T	ENSP00000392492.2:n.104-738C>T
ENST00000547400.5:c.355+351C>T	ENSP00000446724.1:n.355+351C>T
ENST00000550683.5:c.498C>T	ENSP00000447884.1:p.Gly166=
NM_000020.2:c.456C>T , LRG_543t1:c.456C>T	NP_000011.2:p.Gly152=
NM_001077401.1:c.456C>T	NP_001070869.1:p.Gly152=
XM_005269235.2:c.456C>T	XP_005269292.1:p.Gly152=
XM_011539008.1:c.355+351C>T	XP_011537310.1:n.355+351C>T
XM_024449279.1:c.-234C>T	XP_024305047.1:n.-234C>T
NM_000020.3:c.456C>T MANE Select	NP_000011.2:p.Gly152=
NM_001077401.2:c.456C>T	NP_001070869.1:p.Gly152=