Canonical Allele Identifier: CA2658328546

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323075-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323075C>T , CM000664.2:g.27323075C>T	GRCh38
NC_000002.11:g.27545942C>T , CM000664.1:g.27545942C>T	GRCh37
NC_000002.10:g.27399446C>T	NCBI36
NG_008075.1:g.4490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-29G>A MANE Select	ENSP00000369383.1:n.-29G>A
ENST00000357186.10:c.18+1358G>A	ENSP00000349713.6:n.18+1358G>A
ENST00000380044.5:c.-29G>A	ENSP00000369383.1:n.-29G>A
ENST00000399052.8:c.-29G>A	ENSP00000382006.4:n.-29G>A
ENST00000402722.5:c.-29G>A	ENSP00000386000.1:n.-29G>A
ENST00000405076.5:c.-29G>A	ENSP00000385175.1:n.-29G>A
ENST00000426513.6:c.-29G>A	ENSP00000403824.2:n.-29G>A
ENST00000486898.1:n.23G>A
ENST00000494436.1:n.3G>A
ENST00000621183.4:n.28G>A
ENST00000621470.4:n.23G>A
NM_002437.4:c.-29G>A	NP_002428.1:n.-29G>A
XM_005264327.2:c.-153G>A	XP_005264384.1:n.-153G>A
XM_006712021.2:c.-234G>A	XP_006712084.1:n.-234G>A
XM_006712021.3:c.-234G>A	XP_006712084.1:n.-234G>A
XM_017004150.1:c.-3281G>A	XP_016859639.1:n.-3281G>A
NM_002437.5:c.-29G>A MANE Select	NP_002428.1:n.-29G>A