Canonical Allele Identifier: CA346208963

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535619C>A (hg19) ; chr2:g.27312752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312752C>A , CM000664.2:g.27312752C>A	GRCh38
NC_000002.11:g.27535619C>A , CM000664.1:g.27535619C>A	GRCh37
NC_000002.10:g.27389123C>A	NCBI36
NG_008075.1:g.14813G>T
NG_033055.1:g.512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.207G>T MANE Select	ENSP00000369383.1:p.Trp69Cys
ENST00000233545.6:c.207G>T	ENSP00000233545.2:p.Trp69Cys
ENST00000357186.10:c.39G>T	ENSP00000349713.6:p.Trp13Cys
ENST00000380044.5:c.207G>T	ENSP00000369383.1:p.Trp69Cys
ENST00000402310.5:c.207G>T	ENSP00000383955.1:p.Trp69Cys
ENST00000402722.5:c.172G>T	ENSP00000386000.1:p.Val58Leu
ENST00000403262.6:c.207G>T	ENSP00000385671.1:p.Trp69Cys
ENST00000405076.5:c.186+242G>T	ENSP00000385175.1:n.186+242G>T
ENST00000405983.5:c.252G>T	ENSP00000384586.1:p.Trp84Cys
ENST00000415514.5:c.*8G>T	ENSP00000388043.1:n.*8G>T
ENST00000426513.6:c.172G>T	ENSP00000403824.2:p.Val58Leu
ENST00000428910.5:c.129G>T	ENSP00000405235.1:p.Trp43Cys
ENST00000430991.5:c.137G>T
ENST00000475085.1:n.235G>T
ENST00000616446.1:n.184G>T
ENST00000616707.1:n.636G>T
ENST00000617583.4:n.233G>T
ENST00000621183.4:n.263G>T
ENST00000621470.4:n.223G>T
ENST00000622003.4:n.380G>T
NM_002437.4:c.207G>T	NP_002428.1:p.Trp69Cys
XM_005264326.2:c.207G>T	XP_005264383.1:p.Trp69Cys
XM_005264327.2:c.48G>T	XP_005264384.1:p.Trp16Cys
XM_006712021.2:c.159G>T	XP_006712084.1:p.Trp53Cys
XM_005264326.4:c.207G>T	XP_005264383.1:p.Trp69Cys
XM_006712021.3:c.159G>T	XP_006712084.1:p.Trp53Cys
XM_017004150.1:c.189G>T	XP_016859639.1:p.Trp63Cys
XM_017004151.1:c.159G>T	XP_016859640.1:p.Trp53Cys
XM_017004152.1:c.48G>T	XP_016859641.1:p.Trp16Cys
XM_024452913.1:c.159G>T	XP_024308681.1:p.Trp53Cys
NM_002437.5:c.207G>T MANE Select	NP_002428.1:p.Trp69Cys