Canonical Allele Identifier: CA2658328538
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27323067-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323067C>T , CM000664.2:g.27323067C>T GRCh38
NC_000002.11:g.27545934C>T , CM000664.1:g.27545934C>T GRCh37
NC_000002.10:g.27399438C>T NCBI36
NG_008075.1:g.4498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.-21G>A MANE Select ENSP00000369383.1:n.-21G>A
ENST00000357186.10:c.18+1366G>A ENSP00000349713.6:n.18+1366G>A
ENST00000380044.5:c.-21G>A ENSP00000369383.1:n.-21G>A
ENST00000399052.8:c.-21G>A ENSP00000382006.4:n.-21G>A
ENST00000402722.5:c.-21G>A ENSP00000386000.1:n.-21G>A
ENST00000403262.6:c.-21G>A ENSP00000385671.1:n.-21G>A
ENST00000405076.5:c.-21G>A ENSP00000385175.1:n.-21G>A
ENST00000426513.6:c.-21G>A ENSP00000403824.2:n.-21G>A
ENST00000428910.5:c.-223G>A ENSP00000405235.1:n.-223G>A
ENST00000486898.1:n.31G>A
ENST00000494436.1:n.11G>A
ENST00000617583.4:n.6G>A
ENST00000621183.4:n.36G>A
ENST00000621470.4:n.31G>A
NM_002437.4:c.-21G>A NP_002428.1:n.-21G>A
XM_005264327.2:c.-145G>A XP_005264384.1:n.-145G>A
XM_006712021.2:c.-226G>A XP_006712084.1:n.-226G>A
XM_005264326.4:c.-83G>A XP_005264383.1:n.-83G>A
XM_006712021.3:c.-226G>A XP_006712084.1:n.-226G>A
XM_017004150.1:c.-3273G>A XP_016859639.1:n.-3273G>A
NM_002437.5:c.-21G>A MANE Select NP_002428.1:n.-21G>A