Canonical Allele Identifier: CA346209047

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535636G>C (hg19) ; chr2:g.27312769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312769G>C , CM000664.2:g.27312769G>C	GRCh38
NC_000002.11:g.27535636G>C , CM000664.1:g.27535636G>C	GRCh37
NC_000002.10:g.27389140G>C	NCBI36
NG_008075.1:g.14796C>G
NG_033055.1:g.495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.190C>G MANE Select	ENSP00000369383.1:p.Pro64Ala
ENST00000233545.6:c.190C>G	ENSP00000233545.2:p.Pro64Ala
ENST00000357186.10:c.22C>G	ENSP00000349713.6:p.Pro8Ala
ENST00000380044.5:c.190C>G	ENSP00000369383.1:p.Pro64Ala
ENST00000402310.5:c.190C>G	ENSP00000383955.1:p.Pro64Ala
ENST00000402722.5:c.155C>G	ENSP00000386000.1:p.Pro52Arg
ENST00000403262.6:c.190C>G	ENSP00000385671.1:p.Pro64Ala
ENST00000405076.5:c.186+225C>G	ENSP00000385175.1:n.186+225C>G
ENST00000405983.5:c.235C>G	ENSP00000384586.1:p.Pro79Ala
ENST00000415514.5:c.231C>G	ENSP00000388043.1:p.Ala77=
ENST00000426513.6:c.155C>G	ENSP00000403824.2:p.Pro52Arg
ENST00000428910.5:c.112C>G	ENSP00000405235.1:p.Pro38Ala
ENST00000430991.5:c.120C>G
ENST00000475085.1:n.218C>G
ENST00000616446.1:n.167C>G
ENST00000616707.1:n.619C>G
ENST00000617583.4:n.216C>G
ENST00000621183.4:n.246C>G
ENST00000621470.4:n.206C>G
ENST00000622003.4:n.363C>G
NM_002437.4:c.190C>G	NP_002428.1:p.Pro64Ala
XM_005264326.2:c.190C>G	XP_005264383.1:p.Pro64Ala
XM_005264327.2:c.31C>G	XP_005264384.1:p.Pro11Ala
XM_006712021.2:c.142C>G	XP_006712084.1:p.Pro48Ala
XM_005264326.4:c.190C>G	XP_005264383.1:p.Pro64Ala
XM_006712021.3:c.142C>G	XP_006712084.1:p.Pro48Ala
XM_017004150.1:c.172C>G	XP_016859639.1:p.Pro58Ala
XM_017004151.1:c.142C>G	XP_016859640.1:p.Pro48Ala
XM_017004152.1:c.31C>G	XP_016859641.1:p.Pro11Ala
XM_024452913.1:c.142C>G	XP_024308681.1:p.Pro48Ala
NM_002437.5:c.190C>G MANE Select	NP_002428.1:p.Pro64Ala