Canonical Allele Identifier: CA346208757

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535594G>C (hg19) ; chr2:g.27312727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312727G>C , CM000664.2:g.27312727G>C	GRCh38
NC_000002.11:g.27535594G>C , CM000664.1:g.27535594G>C	GRCh37
NC_000002.10:g.27389098G>C	NCBI36
NG_008075.1:g.14838C>G
NG_033055.1:g.537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.232C>G MANE Select	ENSP00000369383.1:p.Pro78Ala
ENST00000233545.6:c.232C>G	ENSP00000233545.2:p.Pro78Ala
ENST00000357186.10:c.64C>G	ENSP00000349713.6:p.Pro22Ala
ENST00000380044.5:c.232C>G	ENSP00000369383.1:p.Pro78Ala
ENST00000402310.5:c.232C>G	ENSP00000383955.1:p.Pro78Ala
ENST00000402722.5:c.197C>G	ENSP00000386000.1:p.Pro66Arg
ENST00000403262.6:c.232C>G	ENSP00000385671.1:p.Pro78Ala
ENST00000405076.5:c.186+267C>G	ENSP00000385175.1:n.186+267C>G
ENST00000405983.5:c.277C>G	ENSP00000384586.1:p.Pro93Ala
ENST00000415514.5:c.*33C>G	ENSP00000388043.1:n.*33C>G
ENST00000426513.6:c.197C>G	ENSP00000403824.2:p.Pro66Arg
ENST00000428910.5:c.154C>G	ENSP00000405235.1:p.Pro52Ala
ENST00000430991.5:c.162C>G
ENST00000475085.1:n.260C>G
ENST00000616446.1:n.209C>G
ENST00000616707.1:n.661C>G
ENST00000617583.4:n.258C>G
ENST00000621183.4:n.288C>G
ENST00000621470.4:n.248C>G
ENST00000622003.4:n.405C>G
NM_002437.4:c.232C>G	NP_002428.1:p.Pro78Ala
XM_005264326.2:c.232C>G	XP_005264383.1:p.Pro78Ala
XM_005264327.2:c.73C>G	XP_005264384.1:p.Pro25Ala
XM_006712021.2:c.184C>G	XP_006712084.1:p.Pro62Ala
XM_005264326.4:c.232C>G	XP_005264383.1:p.Pro78Ala
XM_006712021.3:c.184C>G	XP_006712084.1:p.Pro62Ala
XM_017004150.1:c.214C>G	XP_016859639.1:p.Pro72Ala
XM_017004151.1:c.184C>G	XP_016859640.1:p.Pro62Ala
XM_017004152.1:c.73C>G	XP_016859641.1:p.Pro25Ala
XM_024452913.1:c.184C>G	XP_024308681.1:p.Pro62Ala
NM_002437.5:c.232C>G MANE Select	NP_002428.1:p.Pro78Ala