Canonical Allele Identifier: CA346205316

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309917-G-T
• MyVariant Identifiers: chr2:g.27532785G>T (hg19) ; chr2:g.27309917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309917G>T , CM000664.2:g.27309917G>T	GRCh38
NC_000002.11:g.27532785G>T , CM000664.1:g.27532785G>T	GRCh37
NC_000002.10:g.27386289G>T	NCBI36
NG_008075.1:g.17647C>A
NG_033055.1:g.3346C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.526C>A MANE Select	ENSP00000369383.1:p.Leu176Ile
ENST00000233545.6:c.526C>A	ENSP00000233545.2:p.Leu176Ile
ENST00000357186.10:c.358C>A	ENSP00000349713.6:p.Leu120Ile
ENST00000380044.5:c.526C>A	ENSP00000369383.1:p.Leu176Ile
ENST00000402310.5:c.473C>A	ENSP00000383955.1:p.Ala158Asp
ENST00000402722.5:c.*105C>A	ENSP00000386000.1:n.*105C>A
ENST00000405076.5:c.337C>A	ENSP00000385175.1:p.Leu113Ile
ENST00000405983.5:c.571C>A	ENSP00000384586.1:p.Leu191Ile
ENST00000415514.5:c.*327C>A	ENSP00000388043.1:n.*327C>A
ENST00000426513.6:c.*191C>A	ENSP00000403824.2:n.*191C>A
ENST00000430991.5:c.360C>A
ENST00000620797.4:n.199C>A
ENST00000621183.4:n.829C>A
NM_002437.4:c.526C>A	NP_002428.1:p.Leu176Ile
XM_005264326.2:c.526C>A	XP_005264383.1:p.Leu176Ile
XM_005264327.2:c.367C>A	XP_005264384.1:p.Leu123Ile
XM_006712021.2:c.478C>A	XP_006712084.1:p.Leu160Ile
XM_005264326.4:c.526C>A	XP_005264383.1:p.Leu176Ile
XM_006712021.3:c.478C>A	XP_006712084.1:p.Leu160Ile
XM_017004150.1:c.508C>A	XP_016859639.1:p.Leu170Ile
XM_017004151.1:c.478C>A	XP_016859640.1:p.Leu160Ile
XM_017004152.1:c.367C>A	XP_016859641.1:p.Leu123Ile
XM_024452913.1:c.478C>A	XP_024308681.1:p.Leu160Ile
NM_002437.5:c.526C>A MANE Select	NP_002428.1:p.Leu176Ile