Canonical Allele Identifier: CA346208497

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535557A>C (hg19) ; chr2:g.27312690A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312690A>C , CM000664.2:g.27312690A>C	GRCh38
NC_000002.11:g.27535557A>C , CM000664.1:g.27535557A>C	GRCh37
NC_000002.10:g.27389061A>C	NCBI36
NG_008075.1:g.14875T>G
NG_033055.1:g.574T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.269T>G MANE Select	ENSP00000369383.1:p.Leu90Trp
ENST00000233545.6:c.269T>G	ENSP00000233545.2:p.Leu90Trp
ENST00000357186.10:c.101T>G	ENSP00000349713.6:p.Leu34Trp
ENST00000380044.5:c.269T>G	ENSP00000369383.1:p.Leu90Trp
ENST00000402310.5:c.269T>G	ENSP00000383955.1:p.Leu90Trp
ENST00000402722.5:c.234T>G	ENSP00000386000.1:p.Val78=
ENST00000403262.6:c.269T>G	ENSP00000385671.1:p.Leu90Trp
ENST00000405076.5:c.186+304T>G	ENSP00000385175.1:n.186+304T>G
ENST00000405983.5:c.314T>G	ENSP00000384586.1:p.Leu105Trp
ENST00000415514.5:c.*70T>G	ENSP00000388043.1:n.*70T>G
ENST00000426513.6:c.234T>G	ENSP00000403824.2:p.Val78=
ENST00000428910.5:c.191T>G	ENSP00000405235.1:p.Leu64Trp
ENST00000430991.5:c.199T>G
ENST00000475085.1:n.297T>G
ENST00000616446.1:n.246T>G
ENST00000616707.1:n.698T>G
ENST00000617583.4:n.295T>G
ENST00000621183.4:n.325T>G
ENST00000621470.4:n.285T>G
ENST00000622003.4:n.442T>G
NM_002437.4:c.269T>G	NP_002428.1:p.Leu90Trp
XM_005264326.2:c.269T>G	XP_005264383.1:p.Leu90Trp
XM_005264327.2:c.110T>G	XP_005264384.1:p.Leu37Trp
XM_006712021.2:c.221T>G	XP_006712084.1:p.Leu74Trp
XM_005264326.4:c.269T>G	XP_005264383.1:p.Leu90Trp
XM_006712021.3:c.221T>G	XP_006712084.1:p.Leu74Trp
XM_017004150.1:c.251T>G	XP_016859639.1:p.Leu84Trp
XM_017004151.1:c.221T>G	XP_016859640.1:p.Leu74Trp
XM_017004152.1:c.110T>G	XP_016859641.1:p.Leu37Trp
XM_024452913.1:c.221T>G	XP_024308681.1:p.Leu74Trp
NM_002437.5:c.269T>G MANE Select	NP_002428.1:p.Leu90Trp