Canonical Allele Identifier: CA2658326065

Gene: MPV17

Linked Data

• gnomAD v4: 2-27311850-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311850G>T , CM000664.2:g.27311850G>T	GRCh38
NC_000002.11:g.27534718G>T , CM000664.1:g.27534718G>T	GRCh37
NC_000002.10:g.27388222G>T	NCBI36
NG_008075.1:g.15714C>A
NG_033055.1:g.1413C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.461+49C>A MANE Select	ENSP00000369383.1:n.461+49C>A
ENST00000233545.6:c.461+49C>A	ENSP00000233545.2:n.461+49C>A
ENST00000357186.10:c.293+49C>A	ENSP00000349713.6:n.293+49C>A
ENST00000380044.5:c.461+49C>A	ENSP00000369383.1:n.461+49C>A
ENST00000402310.5:c.408+364C>A	ENSP00000383955.1:n.408+364C>A
ENST00000402722.5:c.*40+644C>A	ENSP00000386000.1:n.*40+644C>A
ENST00000403262.6:c.461+49C>A	ENSP00000385671.1:n.461+49C>A
ENST00000405076.5:c.272+49C>A	ENSP00000385175.1:n.272+49C>A
ENST00000405983.5:c.506+49C>A	ENSP00000384586.1:n.506+49C>A
ENST00000415514.5:c.*262+49C>A	ENSP00000388043.1:n.*262+49C>A
ENST00000426513.6:c.*126+49C>A	ENSP00000403824.2:n.*126+49C>A
ENST00000430991.5:c.295+49C>A
ENST00000616707.1:n.1538C>A
ENST00000620797.4:n.134+49C>A
ENST00000621183.4:n.764+49C>A
NM_002437.4:c.461+49C>A	NP_002428.1:n.461+49C>A
XM_005264326.2:c.461+49C>A	XP_005264383.1:n.461+49C>A
XM_005264327.2:c.302+49C>A	XP_005264384.1:n.302+49C>A
XM_006712021.2:c.413+49C>A	XP_006712084.1:n.413+49C>A
XM_005264326.4:c.461+49C>A	XP_005264383.1:n.461+49C>A
XM_006712021.3:c.413+49C>A	XP_006712084.1:n.413+49C>A
XM_017004150.1:c.443+49C>A	XP_016859639.1:n.443+49C>A
XM_017004151.1:c.413+49C>A	XP_016859640.1:n.413+49C>A
XM_017004152.1:c.302+49C>A	XP_016859641.1:n.302+49C>A
XM_024452913.1:c.413+49C>A	XP_024308681.1:n.413+49C>A
NM_002437.5:c.461+49C>A MANE Select	NP_002428.1:n.461+49C>A