Canonical Allele Identifier: CA384899236

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1322799
• ClinVar RCV Id: RCV001783174
• dbSNP Id: rs2139067861
• gnomAD v4: 12-51913750-C-T
• MyVariant Identifiers: chr12:g.52307534C>T (hg19) ; chr12:g.51913750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913750C>T , CM000674.2:g.51913750C>T	GRCh38
NC_000012.11:g.52307534C>T , CM000674.1:g.52307534C>T	GRCh37
NC_000012.10:g.50593801C>T	NCBI36
NG_009549.1:g.11333C>T , LRG_543:g.11333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+400C>T	ENSP00000446724.2:n.355+400C>T
ENST00000551576.6:c.505C>T	ENSP00000455848.2:p.Gln169Ter
ENST00000552678.2:c.505C>T	ENSP00000457394.2:p.Gln169Ter
ENST00000388922.9:c.505C>T MANE Select	ENSP00000373574.4:p.Gln169Ter
ENST00000388922.8:c.505C>T	ENSP00000373574.4:p.Gln169Ter
ENST00000419526.6:c.104-689C>T	ENSP00000392492.2:n.104-689C>T
ENST00000547400.5:c.355+400C>T	ENSP00000446724.1:n.355+400C>T
ENST00000550683.5:c.547C>T	ENSP00000447884.1:p.Gln183Ter
NM_000020.2:c.505C>T , LRG_543t1:c.505C>T	NP_000011.2:p.Gln169Ter
NM_001077401.1:c.505C>T	NP_001070869.1:p.Gln169Ter
XM_005269235.2:c.505C>T	XP_005269292.1:p.Gln169Ter
XM_011539008.1:c.355+400C>T	XP_011537310.1:n.355+400C>T
XM_024449279.1:c.-185C>T	XP_024305047.1:n.-185C>T
NM_000020.3:c.505C>T MANE Select	NP_000011.2:p.Gln169Ter
NM_001077401.2:c.505C>T	NP_001070869.1:p.Gln169Ter