Canonical Allele Identifier: CA346208147

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535423G>C (hg19) ; chr2:g.27312556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312556G>C , CM000664.2:g.27312556G>C	GRCh38
NC_000002.11:g.27535423G>C , CM000664.1:g.27535423G>C	GRCh37
NC_000002.10:g.27388927G>C	NCBI36
NG_008075.1:g.15009C>G
NG_033055.1:g.708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.313C>G MANE Select	ENSP00000369383.1:p.Leu105Val
ENST00000233545.6:c.313C>G	ENSP00000233545.2:p.Leu105Val
ENST00000357186.10:c.145C>G	ENSP00000349713.6:p.Leu49Val
ENST00000380044.5:c.313C>G	ENSP00000369383.1:p.Leu105Val
ENST00000402310.5:c.313C>G	ENSP00000383955.1:p.Leu105Val
ENST00000402722.5:c.278C>G	ENSP00000386000.1:p.Ser93Cys
ENST00000403262.6:c.313C>G	ENSP00000385671.1:p.Leu105Val
ENST00000405076.5:c.187-310C>G	ENSP00000385175.1:n.187-310C>G
ENST00000405983.5:c.358C>G	ENSP00000384586.1:p.Leu120Val
ENST00000415514.5:c.*114C>G	ENSP00000388043.1:n.*114C>G
ENST00000426513.6:c.278C>G	ENSP00000403824.2:p.Ser93Cys
ENST00000428910.5:c.235C>G	ENSP00000405235.1:p.Leu79Val
ENST00000430991.5:c.209+124C>G
ENST00000475085.1:n.341C>G
ENST00000616446.1:n.290C>G
ENST00000616707.1:n.832C>G
ENST00000617583.4:n.339C>G
ENST00000621183.4:n.369C>G
ENST00000621470.4:n.329C>G
ENST00000622003.4:n.486C>G
NM_002437.4:c.313C>G	NP_002428.1:p.Leu105Val
XM_005264326.2:c.313C>G	XP_005264383.1:p.Leu105Val
XM_005264327.2:c.154C>G	XP_005264384.1:p.Leu52Val
XM_006712021.2:c.265C>G	XP_006712084.1:p.Leu89Val
XM_005264326.4:c.313C>G	XP_005264383.1:p.Leu105Val
XM_006712021.3:c.265C>G	XP_006712084.1:p.Leu89Val
XM_017004150.1:c.295C>G	XP_016859639.1:p.Leu99Val
XM_017004151.1:c.265C>G	XP_016859640.1:p.Leu89Val
XM_017004152.1:c.154C>G	XP_016859641.1:p.Leu52Val
XM_024452913.1:c.265C>G	XP_024308681.1:p.Leu89Val
NM_002437.5:c.313C>G MANE Select	NP_002428.1:p.Leu105Val