Canonical Allele Identifier: CA346209504

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535962G>C (hg19) ; chr2:g.27313095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313095G>C , CM000664.2:g.27313095G>C	GRCh38
NC_000002.11:g.27535962G>C , CM000664.1:g.27535962G>C	GRCh37
NC_000002.10:g.27389466G>C	NCBI36
NG_008075.1:g.14470C>G
NG_033055.1:g.169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.85C>G MANE Select	ENSP00000369383.1:p.Leu29Val
ENST00000233545.6:c.85C>G	ENSP00000233545.2:p.Leu29Val
ENST00000357186.10:c.19-323C>G	ENSP00000349713.6:n.19-323C>G
ENST00000380044.5:c.85C>G	ENSP00000369383.1:p.Leu29Val
ENST00000402310.5:c.85C>G	ENSP00000383955.1:p.Leu29Val
ENST00000402722.5:c.71-21C>G	ENSP00000386000.1:n.71-21C>G
ENST00000403262.6:c.85C>G	ENSP00000385671.1:p.Leu29Val
ENST00000405076.5:c.85C>G	ENSP00000385175.1:p.Leu29Val
ENST00000405983.5:c.130C>G	ENSP00000384586.1:p.Leu44Val
ENST00000415514.5:c.228-323C>G	ENSP00000388043.1:n.228-323C>G
ENST00000426513.6:c.71-21C>G	ENSP00000403824.2:n.71-21C>G
ENST00000428910.5:c.7C>G	ENSP00000405235.1:p.Leu3Val
ENST00000430991.5:c.15C>G
ENST00000616446.1:n.62C>G
ENST00000616707.1:n.293C>G
ENST00000617583.4:n.111C>G
ENST00000621183.4:n.141C>G
ENST00000621470.4:n.122-21C>G
ENST00000622003.4:n.258C>G
NM_002437.4:c.85C>G	NP_002428.1:p.Leu29Val
XM_005264326.2:c.85C>G	XP_005264383.1:p.Leu29Val
XM_005264327.2:c.-54-21C>G	XP_005264384.1:n.-54-21C>G
XM_006712021.2:c.37C>G	XP_006712084.1:p.Leu13Val
XM_005264326.4:c.85C>G	XP_005264383.1:p.Leu29Val
XM_006712021.3:c.37C>G	XP_006712084.1:p.Leu13Val
XM_017004150.1:c.67C>G	XP_016859639.1:p.Leu23Val
XM_017004151.1:c.37C>G	XP_016859640.1:p.Leu13Val
XM_017004152.1:c.-54-21C>G	XP_016859641.1:n.-54-21C>G
XM_024452913.1:c.37C>G	XP_024308681.1:p.Leu13Val
NM_002437.5:c.85C>G MANE Select	NP_002428.1:p.Leu29Val