Canonical Allele Identifier: CA384899379

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1163056
• ClinVar RCV Id: RCV001507804 ; RCV001882548 ; RCV002343698
• dbSNP Id: rs2139067969
• MyVariant Identifiers: chr12:g.52307556T>C (hg19) ; chr12:g.51913772T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913772T>C , CM000674.2:g.51913772T>C	GRCh38
NC_000012.11:g.52307556T>C , CM000674.1:g.52307556T>C	GRCh37
NC_000012.10:g.50593823T>C	NCBI36
NG_009549.1:g.11355T>C , LRG_543:g.11355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+422T>C	ENSP00000446724.2:n.355+422T>C
ENST00000551576.6:c.525+2T>C	ENSP00000455848.2:n.525+2T>C
ENST00000552678.2:c.525+2T>C	ENSP00000457394.2:n.525+2T>C
ENST00000388922.9:c.525+2T>C MANE Select	ENSP00000373574.4:n.525+2T>C
ENST00000388922.8:c.525+2T>C	ENSP00000373574.4:n.525+2T>C
ENST00000419526.6:c.104-667T>C	ENSP00000392492.2:n.104-667T>C
ENST00000547400.5:c.355+422T>C	ENSP00000446724.1:n.355+422T>C
ENST00000550683.5:c.567+2T>C	ENSP00000447884.1:n.567+2T>C
NM_000020.2:c.525+2T>C , LRG_543t1:c.525+2T>C	NP_000011.2:n.525+2T>C
NM_001077401.1:c.525+2T>C	NP_001070869.1:n.525+2T>C
XM_005269235.2:c.525+2T>C	XP_005269292.1:n.525+2T>C
XM_011539008.1:c.355+422T>C	XP_011537310.1:n.355+422T>C
XM_024449279.1:c.-165+2T>C	XP_024305047.1:n.-165+2T>C
NM_000020.3:c.525+2T>C MANE Select	NP_000011.2:n.525+2T>C
NM_001077401.2:c.525+2T>C	NP_001070869.1:n.525+2T>C