Canonical Allele Identifier: CA1028674915

Gene: MPV17

Linked Data

• dbSNP Id: rs1679915494
• gnomAD v3: 2-27323070-T-G
• gnomAD v4: 2-27323070-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323070T>G , CM000664.2:g.27323070T>G	GRCh38
NC_000002.11:g.27545937T>G , CM000664.1:g.27545937T>G	GRCh37
NC_000002.10:g.27399441T>G	NCBI36
NG_008075.1:g.4495A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-24A>C MANE Select	ENSP00000369383.1:n.-24A>C
ENST00000357186.10:c.18+1363A>C	ENSP00000349713.6:n.18+1363A>C
ENST00000380044.5:c.-24A>C	ENSP00000369383.1:n.-24A>C
ENST00000399052.8:c.-24A>C	ENSP00000382006.4:n.-24A>C
ENST00000402722.5:c.-24A>C	ENSP00000386000.1:n.-24A>C
ENST00000405076.5:c.-24A>C	ENSP00000385175.1:n.-24A>C
ENST00000426513.6:c.-24A>C	ENSP00000403824.2:n.-24A>C
ENST00000428910.5:c.-226A>C	ENSP00000405235.1:n.-226A>C
ENST00000486898.1:n.28A>C
ENST00000494436.1:n.8A>C
ENST00000617583.4:n.3A>C
ENST00000621183.4:n.33A>C
ENST00000621470.4:n.28A>C
NM_002437.4:c.-24A>C	NP_002428.1:n.-24A>C
XM_005264327.2:c.-148A>C	XP_005264384.1:n.-148A>C
XM_006712021.2:c.-229A>C	XP_006712084.1:n.-229A>C
XM_006712021.3:c.-229A>C	XP_006712084.1:n.-229A>C
XM_017004150.1:c.-3276A>C	XP_016859639.1:n.-3276A>C
NM_002437.5:c.-24A>C MANE Select	NP_002428.1:n.-24A>C