Canonical Allele Identifier: CA346207843

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535375C>A (hg19) ; chr2:g.27312508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312508C>A , CM000664.2:g.27312508C>A	GRCh38
NC_000002.11:g.27535375C>A , CM000664.1:g.27535375C>A	GRCh37
NC_000002.10:g.27388879C>A	NCBI36
NG_008075.1:g.15057G>T
NG_033055.1:g.756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.361G>T MANE Select	ENSP00000369383.1:p.Ala121Ser
ENST00000233545.6:c.361G>T	ENSP00000233545.2:p.Ala121Ser
ENST00000357186.10:c.193G>T	ENSP00000349713.6:p.Ala65Ser
ENST00000380044.5:c.361G>T	ENSP00000369383.1:p.Ala121Ser
ENST00000402310.5:c.361G>T	ENSP00000383955.1:p.Ala121Ser
ENST00000402722.5:c.*26G>T	ENSP00000386000.1:n.*26G>T
ENST00000403262.6:c.361G>T	ENSP00000385671.1:p.Ala121Ser
ENST00000405076.5:c.187-262G>T	ENSP00000385175.1:n.187-262G>T
ENST00000405983.5:c.406G>T	ENSP00000384586.1:p.Ala136Ser
ENST00000415514.5:c.*162G>T	ENSP00000388043.1:n.*162G>T
ENST00000426513.6:c.*26G>T	ENSP00000403824.2:n.*26G>T
ENST00000428910.5:c.283G>T	ENSP00000405235.1:p.Ala95Ser
ENST00000430991.5:c.209+172G>T
ENST00000475085.1:n.389G>T
ENST00000616446.1:n.338G>T
ENST00000616707.1:n.880G>T
ENST00000617583.4:n.387G>T
ENST00000621183.4:n.417G>T
ENST00000621470.4:n.377G>T
ENST00000622003.4:n.534G>T
NM_002437.4:c.361G>T	NP_002428.1:p.Ala121Ser
XM_005264326.2:c.361G>T	XP_005264383.1:p.Ala121Ser
XM_005264327.2:c.202G>T	XP_005264384.1:p.Ala68Ser
XM_006712021.2:c.313G>T	XP_006712084.1:p.Ala105Ser
XM_005264326.4:c.361G>T	XP_005264383.1:p.Ala121Ser
XM_006712021.3:c.313G>T	XP_006712084.1:p.Ala105Ser
XM_017004150.1:c.343G>T	XP_016859639.1:p.Ala115Ser
XM_017004151.1:c.313G>T	XP_016859640.1:p.Ala105Ser
XM_017004152.1:c.202G>T	XP_016859641.1:p.Ala68Ser
XM_024452913.1:c.313G>T	XP_024308681.1:p.Ala105Ser
NM_002437.5:c.361G>T MANE Select	NP_002428.1:p.Ala121Ser