Canonical Allele Identifier: CA16607366

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 381910
• ClinVar RCV Id: RCV000756964 ; RCV002365499 ; RCV001861514
• dbSNP Id: rs1057521203
• MyVariant Identifiers: chr12:g.52309990G>A (hg19) ; chr12:g.51916206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916206G>A , CM000674.2:g.51916206G>A	GRCh38
NC_000012.11:g.52309990G>A , CM000674.1:g.52309990G>A	GRCh37
NC_000012.10:g.50596257G>A	NCBI36
NG_009549.1:g.13789G>A , LRG_543:g.13789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.949G>A	ENSP00000446724.2:p.Glu317Lys
ENST00000551576.6:c.1219G>A	ENSP00000455848.2:p.Glu407Lys
ENST00000552678.2:c.1219G>A	ENSP00000457394.2:p.Glu407Lys
ENST00000388922.9:c.1219G>A MANE Select	ENSP00000373574.4:p.Glu407Lys
ENST00000388922.8:c.1219G>A	ENSP00000373574.4:p.Glu407Lys
ENST00000419526.6:c.697G>A	ENSP00000392492.2:p.Glu233Lys
ENST00000547632.1:n.494G>A
ENST00000550683.5:c.1261G>A	ENSP00000447884.1:p.Glu421Lys
ENST00000552678.1:c.224G>A
NM_000020.2:c.1219G>A , LRG_543t1:c.1219G>A	NP_000011.2:p.Glu407Lys
NM_001077401.1:c.1219G>A	NP_001070869.1:p.Glu407Lys
XM_005269235.2:c.1219G>A	XP_005269292.1:p.Glu407Lys
XM_011539008.1:c.949G>A	XP_011537310.1:p.Glu317Lys
XM_024449279.1:c.430G>A	XP_024305047.1:p.Glu144Lys
NM_000020.3:c.1219G>A MANE Select	NP_000011.2:p.Glu407Lys
NM_001077401.2:c.1219G>A	NP_001070869.1:p.Glu407Lys