Canonical Allele Identifier: CA384900074

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 993409
• ClinVar RCV Id: RCV001284954
• dbSNP Id: rs1940782986
• MyVariant Identifiers: chr12:g.52308284G>C (hg19) ; chr12:g.51914500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914500G>C , CM000674.2:g.51914500G>C	GRCh38
NC_000012.11:g.52308284G>C , CM000674.1:g.52308284G>C	GRCh37
NC_000012.10:g.50594551G>C	NCBI36
NG_009549.1:g.12083G>C , LRG_543:g.12083G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.417G>C	ENSP00000446724.2:p.Lys139Asn
ENST00000551576.6:c.687G>C	ENSP00000455848.2:p.Lys229Asn
ENST00000552678.2:c.687G>C	ENSP00000457394.2:p.Lys229Asn
ENST00000388922.9:c.687G>C MANE Select	ENSP00000373574.4:p.Lys229Asn
ENST00000388922.8:c.687G>C	ENSP00000373574.4:p.Lys229Asn
ENST00000419526.6:c.165G>C	ENSP00000392492.2:p.Lys55Asn
ENST00000547400.5:c.417G>C	ENSP00000446724.1:p.Lys139Asn
ENST00000550683.5:c.729G>C	ENSP00000447884.1:p.Lys243Asn
NM_000020.2:c.687G>C , LRG_543t1:c.687G>C	NP_000011.2:p.Lys229Asn
NM_001077401.1:c.687G>C	NP_001070869.1:p.Lys229Asn
XM_005269235.2:c.687G>C	XP_005269292.1:p.Lys229Asn
XM_011539008.1:c.417G>C	XP_011537310.1:p.Lys139Asn
XM_024449279.1:c.-103G>C	XP_024305047.1:n.-103G>C
NM_000020.3:c.687G>C MANE Select	NP_000011.2:p.Lys229Asn
NM_001077401.2:c.687G>C	NP_001070869.1:p.Lys229Asn