Canonical Allele Identifier: CA384901790

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1720346
• ClinVar RCV Id: RCV002305148
• MyVariant Identifiers: chr12:g.52309273T>G (hg19) ; chr12:g.51915489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915489T>G , CM000674.2:g.51915489T>G	GRCh38
NC_000012.11:g.52309273T>G , CM000674.1:g.52309273T>G	GRCh37
NC_000012.10:g.50595540T>G	NCBI36
NG_009549.1:g.13072T>G , LRG_543:g.13072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.767T>G	ENSP00000446724.2:p.Ile256Ser
ENST00000551576.6:c.1037T>G	ENSP00000455848.2:p.Ile346Ser
ENST00000552678.2:c.1037T>G	ENSP00000457394.2:p.Ile346Ser
ENST00000388922.9:c.1037T>G MANE Select	ENSP00000373574.4:p.Ile346Ser
ENST00000388922.8:c.1037T>G	ENSP00000373574.4:p.Ile346Ser
ENST00000419526.6:c.515T>G	ENSP00000392492.2:p.Ile172Ser
ENST00000550683.5:c.1079T>G	ENSP00000447884.1:p.Ile360Ser
ENST00000552678.1:c.42T>G
NM_000020.2:c.1037T>G , LRG_543t1:c.1037T>G	NP_000011.2:p.Ile346Ser
NM_001077401.1:c.1037T>G	NP_001070869.1:p.Ile346Ser
XM_005269235.2:c.1037T>G	XP_005269292.1:p.Ile346Ser
XM_011539008.1:c.767T>G	XP_011537310.1:p.Ile256Ser
XM_024449279.1:c.248T>G	XP_024305047.1:p.Ile83Ser
NM_000020.3:c.1037T>G MANE Select	NP_000011.2:p.Ile346Ser
NM_001077401.2:c.1037T>G	NP_001070869.1:p.Ile346Ser