Canonical Allele Identifier: CA2658328557

Gene: MPV17

Linked Data

• gnomAD v4: 2-27323086-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323086G>T , CM000664.2:g.27323086G>T	GRCh38
NC_000002.11:g.27545953G>T , CM000664.1:g.27545953G>T	GRCh37
NC_000002.10:g.27399457G>T	NCBI36
NG_008075.1:g.4479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-40C>A MANE Select	ENSP00000369383.1:n.-40C>A
ENST00000357186.10:c.18+1347C>A	ENSP00000349713.6:n.18+1347C>A
ENST00000380044.5:c.-40C>A	ENSP00000369383.1:n.-40C>A
ENST00000399052.8:c.-40C>A	ENSP00000382006.4:n.-40C>A
ENST00000405076.5:c.-40C>A	ENSP00000385175.1:n.-40C>A
ENST00000486898.1:n.12C>A
ENST00000621183.4:n.17C>A
ENST00000621470.4:n.12C>A
NM_002437.4:c.-40C>A	NP_002428.1:n.-40C>A
XM_005264327.2:c.-164C>A	XP_005264384.1:n.-164C>A
XM_006712021.2:c.-245C>A	XP_006712084.1:n.-245C>A
XM_006712021.3:c.-245C>A	XP_006712084.1:n.-245C>A
XM_017004150.1:c.-3292C>A	XP_016859639.1:n.-3292C>A
NM_002437.5:c.-40C>A MANE Select	NP_002428.1:n.-40C>A