Canonical Allele Identifier: CA2658325319

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309568-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309568C>A , CM000664.2:g.27309568C>A	GRCh38
NC_000002.11:g.27532436C>A , CM000664.1:g.27532436C>A	GRCh37
NC_000002.10:g.27385940C>A	NCBI36
NG_008075.1:g.17996G>T
NG_033055.1:g.3695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*344G>T MANE Select	ENSP00000369383.1:n.*344G>T
ENST00000233545.6:c.*344G>T	ENSP00000233545.2:n.*344G>T
ENST00000357186.10:c.*344G>T	ENSP00000349713.6:n.*344G>T
ENST00000380044.5:c.*344G>T	ENSP00000369383.1:n.*344G>T
ENST00000402310.5:c.*309G>T	ENSP00000383955.1:n.*309G>T
ENST00000402722.5:c.*454G>T	ENSP00000386000.1:n.*454G>T
ENST00000426513.6:c.*540G>T	ENSP00000403824.2:n.*540G>T
ENST00000620797.4:n.548G>T
NM_002437.4:c.*344G>T	NP_002428.1:n.*344G>T
XM_005264326.2:c.*344G>T	XP_005264383.1:n.*344G>T
XM_005264327.2:c.*344G>T	XP_005264384.1:n.*344G>T
XM_006712021.2:c.*344G>T	XP_006712084.1:n.*344G>T
XM_005264326.4:c.*344G>T	XP_005264383.1:n.*344G>T
XM_006712021.3:c.*344G>T	XP_006712084.1:n.*344G>T
XM_017004150.1:c.*344G>T	XP_016859639.1:n.*344G>T
XM_017004151.1:c.*344G>T	XP_016859640.1:n.*344G>T
XM_017004152.1:c.*344G>T	XP_016859641.1:n.*344G>T
XM_024452913.1:c.*344G>T	XP_024308681.1:n.*344G>T
NM_002437.5:c.*344G>T MANE Select	NP_002428.1:n.*344G>T