Canonical Allele Identifier: CA1240221794

Gene: MPV17

Linked Data

• dbSNP Id: rs1679916230
• gnomAD v4: 2-27323096-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323096C>A , CM000664.2:g.27323096C>A	GRCh38
NC_000002.11:g.27545963C>A , CM000664.1:g.27545963C>A	GRCh37
NC_000002.10:g.27399467C>A	NCBI36
NG_008075.1:g.4469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-50G>T MANE Select	ENSP00000369383.1:n.-50G>T
ENST00000357186.10:c.18+1337G>T	ENSP00000349713.6:n.18+1337G>T
ENST00000380044.5:c.-50G>T	ENSP00000369383.1:n.-50G>T
ENST00000399052.8:c.-50G>T	ENSP00000382006.4:n.-50G>T
ENST00000405076.5:c.-50G>T	ENSP00000385175.1:n.-50G>T
ENST00000486898.1:n.2G>T
ENST00000621183.4:n.7G>T
ENST00000621470.4:n.2G>T
NM_002437.4:c.-50G>T	NP_002428.1:n.-50G>T
XM_005264327.2:c.-174G>T	XP_005264384.1:n.-174G>T
XM_006712021.2:c.-255G>T	XP_006712084.1:n.-255G>T
XM_006712021.3:c.-255G>T	XP_006712084.1:n.-255G>T
XM_017004150.1:c.-3302G>T	XP_016859639.1:n.-3302G>T
NM_002437.5:c.-50G>T MANE Select	NP_002428.1:n.-50G>T