Canonical Allele Identifier: CA384906345

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 633669
• ClinVar RCV Id: RCV000782233
• dbSNP Id: rs1565597552
• gnomAD v4: 12-51920888-C-T
• MyVariant Identifiers: chr12:g.52314672C>T (hg19) ; chr12:g.51920888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920888C>T , CM000674.2:g.51920888C>T	GRCh38
NC_000012.11:g.52314672C>T , CM000674.1:g.52314672C>T	GRCh37
NC_000012.10:g.50600939C>T	NCBI36
NG_009549.1:g.18471C>T , LRG_543:g.18471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1237C>T	ENSP00000446724.2:p.Gln413Ter
ENST00000551576.6:c.1507C>T	ENSP00000455848.2:p.Gln503Ter
ENST00000388922.9:c.1507C>T MANE Select	ENSP00000373574.4:p.Gln503Ter
ENST00000388922.8:c.1507C>T	ENSP00000373574.4:p.Gln503Ter
ENST00000419526.6:c.985C>T	ENSP00000392492.2:p.Gln329Ter
ENST00000550683.5:c.1549C>T	ENSP00000447884.1:p.Gln517Ter
NM_000020.2:c.1507C>T , LRG_543t1:c.1507C>T	NP_000011.2:p.Gln503Ter
NM_001077401.1:c.1507C>T	NP_001070869.1:p.Gln503Ter
XM_005269235.2:c.1507C>T	XP_005269292.1:p.Gln503Ter
XM_011539008.1:c.1237C>T	XP_011537310.1:p.Gln413Ter
XM_024449279.1:c.718C>T	XP_024305047.1:p.Gln240Ter
NM_000020.3:c.1507C>T MANE Select	NP_000011.2:p.Gln503Ter
NM_001077401.2:c.1507C>T	NP_001070869.1:p.Gln503Ter