Canonical Allele Identifier: CA1028674940

Gene: MPV17

Linked Data

• dbSNP Id: rs1679916000
• gnomAD v3: 2-27323087-G-A
• gnomAD v4: 2-27323087-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323087G>A , CM000664.2:g.27323087G>A	GRCh38
NC_000002.11:g.27545954G>A , CM000664.1:g.27545954G>A	GRCh37
NC_000002.10:g.27399458G>A	NCBI36
NG_008075.1:g.4478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-41C>T MANE Select	ENSP00000369383.1:n.-41C>T
ENST00000357186.10:c.18+1346C>T	ENSP00000349713.6:n.18+1346C>T
ENST00000380044.5:c.-41C>T	ENSP00000369383.1:n.-41C>T
ENST00000399052.8:c.-41C>T	ENSP00000382006.4:n.-41C>T
ENST00000405076.5:c.-41C>T	ENSP00000385175.1:n.-41C>T
ENST00000486898.1:n.11C>T
ENST00000621183.4:n.16C>T
ENST00000621470.4:n.11C>T
NM_002437.4:c.-41C>T	NP_002428.1:n.-41C>T
XM_005264327.2:c.-165C>T	XP_005264384.1:n.-165C>T
XM_006712021.2:c.-246C>T	XP_006712084.1:n.-246C>T
XM_006712021.3:c.-246C>T	XP_006712084.1:n.-246C>T
XM_017004150.1:c.-3293C>T	XP_016859639.1:n.-3293C>T
NM_002437.5:c.-41C>T MANE Select	NP_002428.1:n.-41C>T