Canonical Allele Identifier: CA346208489

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535555A>T (hg19) ; chr2:g.27312688A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312688A>T , CM000664.2:g.27312688A>T	GRCh38
NC_000002.11:g.27535555A>T , CM000664.1:g.27535555A>T	GRCh37
NC_000002.10:g.27389059A>T	NCBI36
NG_008075.1:g.14877T>A
NG_033055.1:g.576T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.271T>A MANE Select	ENSP00000369383.1:p.Leu91Met
ENST00000233545.6:c.271T>A	ENSP00000233545.2:p.Leu91Met
ENST00000357186.10:c.103T>A	ENSP00000349713.6:p.Leu35Met
ENST00000380044.5:c.271T>A	ENSP00000369383.1:p.Leu91Met
ENST00000402310.5:c.271T>A	ENSP00000383955.1:p.Leu91Met
ENST00000402722.5:c.236T>A	ENSP00000386000.1:p.Val79Asp
ENST00000403262.6:c.271T>A	ENSP00000385671.1:p.Leu91Met
ENST00000405076.5:c.186+306T>A	ENSP00000385175.1:n.186+306T>A
ENST00000405983.5:c.316T>A	ENSP00000384586.1:p.Leu106Met
ENST00000415514.5:c.*72T>A	ENSP00000388043.1:n.*72T>A
ENST00000426513.6:c.236T>A	ENSP00000403824.2:p.Val79Asp
ENST00000428910.5:c.193T>A	ENSP00000405235.1:p.Leu65Met
ENST00000430991.5:c.201T>A
ENST00000475085.1:n.299T>A
ENST00000616446.1:n.248T>A
ENST00000616707.1:n.700T>A
ENST00000617583.4:n.297T>A
ENST00000621183.4:n.327T>A
ENST00000621470.4:n.287T>A
ENST00000622003.4:n.444T>A
NM_002437.4:c.271T>A	NP_002428.1:p.Leu91Met
XM_005264326.2:c.271T>A	XP_005264383.1:p.Leu91Met
XM_005264327.2:c.112T>A	XP_005264384.1:p.Leu38Met
XM_006712021.2:c.223T>A	XP_006712084.1:p.Leu75Met
XM_005264326.4:c.271T>A	XP_005264383.1:p.Leu91Met
XM_006712021.3:c.223T>A	XP_006712084.1:p.Leu75Met
XM_017004150.1:c.253T>A	XP_016859639.1:p.Leu85Met
XM_017004151.1:c.223T>A	XP_016859640.1:p.Leu75Met
XM_017004152.1:c.112T>A	XP_016859641.1:p.Leu38Met
XM_024452913.1:c.223T>A	XP_024308681.1:p.Leu75Met
NM_002437.5:c.271T>A MANE Select	NP_002428.1:p.Leu91Met