Canonical Allele Identifier: CA1575625

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1911723
• ClinVar RCV Id: RCV002597167
• dbSNP Id: rs370061168
• ExAC: 2:27535603 G / A
• gnomAD v2: 2-27535603-G-A
• gnomAD v4: 2-27312736-G-A
• COSMIC: COSM1019634 ; COSM1019635
• MyVariant Identifiers: chr2:g.27535603G>A (hg19) ; chr2:g.27312736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312736G>A , CM000664.2:g.27312736G>A	GRCh38
NC_000002.11:g.27535603G>A , CM000664.1:g.27535603G>A	GRCh37
NC_000002.10:g.27389107G>A	NCBI36
NG_008075.1:g.14829C>T
NG_033055.1:g.528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.223C>T MANE Select	ENSP00000369383.1:p.Arg75Trp
ENST00000233545.6:c.223C>T	ENSP00000233545.2:p.Arg75Trp
ENST00000357186.10:c.55C>T	ENSP00000349713.6:p.Arg19Trp
ENST00000380044.5:c.223C>T	ENSP00000369383.1:p.Arg75Trp
ENST00000402310.5:c.223C>T	ENSP00000383955.1:p.Arg75Trp
ENST00000402722.5:c.188C>T	ENSP00000386000.1:p.Ser63Leu
ENST00000403262.6:c.223C>T	ENSP00000385671.1:p.Arg75Trp
ENST00000405076.5:c.186+258C>T	ENSP00000385175.1:n.186+258C>T
ENST00000405983.5:c.268C>T	ENSP00000384586.1:p.Arg90Trp
ENST00000415514.5:c.*24C>T	ENSP00000388043.1:n.*24C>T
ENST00000426513.6:c.188C>T	ENSP00000403824.2:p.Ser63Leu
ENST00000428910.5:c.145C>T	ENSP00000405235.1:p.Arg49Trp
ENST00000430991.5:c.153C>T
ENST00000475085.1:n.251C>T
ENST00000616446.1:n.200C>T
ENST00000616707.1:n.652C>T
ENST00000617583.4:n.249C>T
ENST00000621183.4:n.279C>T
ENST00000621470.4:n.239C>T
ENST00000622003.4:n.396C>T
NM_002437.4:c.223C>T	NP_002428.1:p.Arg75Trp
XM_005264326.2:c.223C>T	XP_005264383.1:p.Arg75Trp
XM_005264327.2:c.64C>T	XP_005264384.1:p.Arg22Trp
XM_006712021.2:c.175C>T	XP_006712084.1:p.Arg59Trp
XM_005264326.4:c.223C>T	XP_005264383.1:p.Arg75Trp
XM_006712021.3:c.175C>T	XP_006712084.1:p.Arg59Trp
XM_017004150.1:c.205C>T	XP_016859639.1:p.Arg69Trp
XM_017004151.1:c.175C>T	XP_016859640.1:p.Arg59Trp
XM_017004152.1:c.64C>T	XP_016859641.1:p.Arg22Trp
XM_024452913.1:c.175C>T	XP_024308681.1:p.Arg59Trp
NM_002437.5:c.223C>T MANE Select	NP_002428.1:p.Arg75Trp