Canonical Allele Identifier: CA1575659

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2053978
• ClinVar RCV Id: RCV002927637 ; RCV003403960
• dbSNP Id: rs768617578
• ExAC: 2:27535887 T / C
• gnomAD v2: 2-27535887-T-C
• gnomAD v3: 2-27313020-T-C
• gnomAD v4: 2-27313020-T-C
• MyVariant Identifiers: chr2:g.27535887T>C (hg19) ; chr2:g.27313020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313020T>C , CM000664.2:g.27313020T>C	GRCh38
NC_000002.11:g.27535887T>C , CM000664.1:g.27535887T>C	GRCh37
NC_000002.10:g.27389391T>C	NCBI36
NG_008075.1:g.14545A>G
NG_033055.1:g.244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.160A>G MANE Select	ENSP00000369383.1:p.Met54Val
ENST00000233545.6:c.160A>G	ENSP00000233545.2:p.Met54Val
ENST00000357186.10:c.19-248A>G	ENSP00000349713.6:n.19-248A>G
ENST00000380044.5:c.160A>G	ENSP00000369383.1:p.Met54Val
ENST00000402310.5:c.160A>G	ENSP00000383955.1:p.Met54Val
ENST00000402722.5:c.125A>G	ENSP00000386000.1:p.His42Arg
ENST00000403262.6:c.160A>G	ENSP00000385671.1:p.Met54Val
ENST00000405076.5:c.160A>G	ENSP00000385175.1:p.Met54Val
ENST00000405983.5:c.205A>G	ENSP00000384586.1:p.Met69Val
ENST00000415514.5:c.228-248A>G	ENSP00000388043.1:n.228-248A>G
ENST00000426513.6:c.125A>G	ENSP00000403824.2:p.His42Arg
ENST00000428910.5:c.82A>G	ENSP00000405235.1:p.Met28Val
ENST00000430991.5:c.90A>G
ENST00000616446.1:n.137A>G
ENST00000616707.1:n.368A>G
ENST00000617583.4:n.186A>G
ENST00000621183.4:n.216A>G
ENST00000621470.4:n.176A>G
ENST00000622003.4:n.333A>G
NM_002437.4:c.160A>G	NP_002428.1:p.Met54Val
XM_005264326.2:c.160A>G	XP_005264383.1:p.Met54Val
XM_005264327.2:c.1A>G	XP_005264384.1:p.Met1Val
XM_006712021.2:c.112A>G	XP_006712084.1:p.Met38Val
XM_005264326.4:c.160A>G	XP_005264383.1:p.Met54Val
XM_006712021.3:c.112A>G	XP_006712084.1:p.Met38Val
XM_017004150.1:c.142A>G	XP_016859639.1:p.Met48Val
XM_017004151.1:c.112A>G	XP_016859640.1:p.Met38Val
XM_017004152.1:c.1A>G	XP_016859641.1:p.Met1Val
XM_024452913.1:c.112A>G	XP_024308681.1:p.Met38Val
NM_002437.5:c.160A>G MANE Select	NP_002428.1:p.Met54Val