Canonical Allele Identifier: CA416045341

Gene: UBIAD1

Linked Data

• COSMIC: COSM3399542
• MyVariant Identifiers: chr1:g.11334002C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273945C>G , CM000663.2:g.11273945C>G	GRCh38
NC_000001.10:g.11334002C>G , CM000663.1:g.11334002C>G	GRCh37
NC_000001.9:g.11256589C>G	NCBI36
NG_009443.1:g.5748C>G
NG_009443.2:g.5748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.414C>G MANE Select	ENSP00000366006.5:p.Leu138=
ENST00000376804.2:c.414C>G	ENSP00000366000.1:p.Leu138=
ENST00000376810.5:c.414C>G	ENSP00000366006.5:p.Leu138=
ENST00000483738.1:c.12C>G	ENSP00000473453.1:p.Leu4=
ENST00000486588.6:c.57C>G	ENSP00000473612.1:p.Leu19=
NM_013319.2:c.414C>G	NP_037451.1:p.Leu138=
XM_006710590.2:c.414C>G	XP_006710653.1:p.Leu138=
XM_011541304.1:c.414C>G	XP_011539606.1:p.Leu138=
XR_946616.1:n.748C>G
NM_001330349.1:c.414C>G	NP_001317278.1:p.Leu138=
NM_001330350.1:c.414C>G	NP_001317279.1:p.Leu138=
XR_946616.3:n.748C>G
NM_001330349.2:c.414C>G	NP_001317278.1:p.Leu138=
NM_001330350.2:c.414C>G	NP_001317279.1:p.Leu138=
NM_013319.3:c.414C>G MANE Select	NP_037451.1:p.Leu138=