Canonical Allele Identifier: CA346208559

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535567T>G (hg19) ; chr2:g.27312700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312700T>G , CM000664.2:g.27312700T>G	GRCh38
NC_000002.11:g.27535567T>G , CM000664.1:g.27535567T>G	GRCh37
NC_000002.10:g.27389071T>G	NCBI36
NG_008075.1:g.14865A>C
NG_033055.1:g.564A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.259A>C MANE Select	ENSP00000369383.1:p.Lys87Gln
ENST00000233545.6:c.259A>C	ENSP00000233545.2:p.Lys87Gln
ENST00000357186.10:c.91A>C	ENSP00000349713.6:p.Lys31Gln
ENST00000380044.5:c.259A>C	ENSP00000369383.1:p.Lys87Gln
ENST00000402310.5:c.259A>C	ENSP00000383955.1:p.Lys87Gln
ENST00000402722.5:c.224A>C	ENSP00000386000.1:p.Glu75Ala
ENST00000403262.6:c.259A>C	ENSP00000385671.1:p.Lys87Gln
ENST00000405076.5:c.186+294A>C	ENSP00000385175.1:n.186+294A>C
ENST00000405983.5:c.304A>C	ENSP00000384586.1:p.Lys102Gln
ENST00000415514.5:c.*60A>C	ENSP00000388043.1:n.*60A>C
ENST00000426513.6:c.224A>C	ENSP00000403824.2:p.Glu75Ala
ENST00000428910.5:c.181A>C	ENSP00000405235.1:p.Lys61Gln
ENST00000430991.5:c.189A>C
ENST00000475085.1:n.287A>C
ENST00000616446.1:n.236A>C
ENST00000616707.1:n.688A>C
ENST00000617583.4:n.285A>C
ENST00000621183.4:n.315A>C
ENST00000621470.4:n.275A>C
ENST00000622003.4:n.432A>C
NM_002437.4:c.259A>C	NP_002428.1:p.Lys87Gln
XM_005264326.2:c.259A>C	XP_005264383.1:p.Lys87Gln
XM_005264327.2:c.100A>C	XP_005264384.1:p.Lys34Gln
XM_006712021.2:c.211A>C	XP_006712084.1:p.Lys71Gln
XM_005264326.4:c.259A>C	XP_005264383.1:p.Lys87Gln
XM_006712021.3:c.211A>C	XP_006712084.1:p.Lys71Gln
XM_017004150.1:c.241A>C	XP_016859639.1:p.Lys81Gln
XM_017004151.1:c.211A>C	XP_016859640.1:p.Lys71Gln
XM_017004152.1:c.100A>C	XP_016859641.1:p.Lys34Gln
XM_024452913.1:c.211A>C	XP_024308681.1:p.Lys71Gln
NM_002437.5:c.259A>C MANE Select	NP_002428.1:p.Lys87Gln