Canonical Allele Identifier: CA346205326

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309921-A-T
• MyVariant Identifiers: chr2:g.27532789A>T (hg19) ; chr2:g.27309921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309921A>T , CM000664.2:g.27309921A>T	GRCh38
NC_000002.11:g.27532789A>T , CM000664.1:g.27532789A>T	GRCh37
NC_000002.10:g.27386293A>T	NCBI36
NG_008075.1:g.17643T>A
NG_033055.1:g.3342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.522T>A MANE Select	ENSP00000369383.1:p.His174Gln
ENST00000233545.6:c.522T>A	ENSP00000233545.2:p.His174Gln
ENST00000357186.10:c.354T>A	ENSP00000349713.6:p.His118Gln
ENST00000380044.5:c.522T>A	ENSP00000369383.1:p.His174Gln
ENST00000402310.5:c.469T>A	ENSP00000383955.1:p.Ser157Thr
ENST00000402722.5:c.*101T>A	ENSP00000386000.1:n.*101T>A
ENST00000405076.5:c.333T>A	ENSP00000385175.1:p.His111Gln
ENST00000405983.5:c.567T>A	ENSP00000384586.1:p.His189Gln
ENST00000415514.5:c.*323T>A	ENSP00000388043.1:n.*323T>A
ENST00000426513.6:c.*187T>A	ENSP00000403824.2:n.*187T>A
ENST00000430991.5:c.356T>A
ENST00000620797.4:n.195T>A
ENST00000621183.4:n.825T>A
NM_002437.4:c.522T>A	NP_002428.1:p.His174Gln
XM_005264326.2:c.522T>A	XP_005264383.1:p.His174Gln
XM_005264327.2:c.363T>A	XP_005264384.1:p.His121Gln
XM_006712021.2:c.474T>A	XP_006712084.1:p.His158Gln
XM_005264326.4:c.522T>A	XP_005264383.1:p.His174Gln
XM_006712021.3:c.474T>A	XP_006712084.1:p.His158Gln
XM_017004150.1:c.504T>A	XP_016859639.1:p.His168Gln
XM_017004151.1:c.474T>A	XP_016859640.1:p.His158Gln
XM_017004152.1:c.363T>A	XP_016859641.1:p.His121Gln
XM_024452913.1:c.474T>A	XP_024308681.1:p.His158Gln
NM_002437.5:c.522T>A MANE Select	NP_002428.1:p.His174Gln