Canonical Allele Identifier: CA2658325327

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309582-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309582G>T , CM000664.2:g.27309582G>T	GRCh38
NC_000002.11:g.27532450G>T , CM000664.1:g.27532450G>T	GRCh37
NC_000002.10:g.27385954G>T	NCBI36
NG_008075.1:g.17982C>A
NG_033055.1:g.3681C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*330C>A MANE Select	ENSP00000369383.1:n.*330C>A
ENST00000233545.6:c.*330C>A	ENSP00000233545.2:n.*330C>A
ENST00000357186.10:c.*330C>A	ENSP00000349713.6:n.*330C>A
ENST00000380044.5:c.*330C>A	ENSP00000369383.1:n.*330C>A
ENST00000402310.5:c.*295C>A	ENSP00000383955.1:n.*295C>A
ENST00000402722.5:c.*440C>A	ENSP00000386000.1:n.*440C>A
ENST00000426513.6:c.*526C>A	ENSP00000403824.2:n.*526C>A
ENST00000620797.4:n.534C>A
NM_002437.4:c.*330C>A	NP_002428.1:n.*330C>A
XM_005264326.2:c.*330C>A	XP_005264383.1:n.*330C>A
XM_005264327.2:c.*330C>A	XP_005264384.1:n.*330C>A
XM_006712021.2:c.*330C>A	XP_006712084.1:n.*330C>A
XM_005264326.4:c.*330C>A	XP_005264383.1:n.*330C>A
XM_006712021.3:c.*330C>A	XP_006712084.1:n.*330C>A
XM_017004150.1:c.*330C>A	XP_016859639.1:n.*330C>A
XM_017004151.1:c.*330C>A	XP_016859640.1:n.*330C>A
XM_017004152.1:c.*330C>A	XP_016859641.1:n.*330C>A
XM_024452913.1:c.*330C>A	XP_024308681.1:n.*330C>A
NM_002437.5:c.*330C>A MANE Select	NP_002428.1:n.*330C>A