Canonical Allele Identifier: CA346207805

Gene: MPV17

Linked Data

• dbSNP Id: rs767352327
• MyVariant Identifiers: chr2:g.27535371T>A (hg19) ; chr2:g.27312504T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312504T>A , CM000664.2:g.27312504T>A	GRCh38
NC_000002.11:g.27535371T>A , CM000664.1:g.27535371T>A	GRCh37
NC_000002.10:g.27388875T>A	NCBI36
NG_008075.1:g.15061A>T
NG_033055.1:g.760A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.365A>T MANE Select	ENSP00000369383.1:p.Lys122Ile
ENST00000233545.6:c.365A>T	ENSP00000233545.2:p.Lys122Ile
ENST00000357186.10:c.197A>T	ENSP00000349713.6:p.Lys66Ile
ENST00000380044.5:c.365A>T	ENSP00000369383.1:p.Lys122Ile
ENST00000402310.5:c.365A>T	ENSP00000383955.1:p.Lys122Ile
ENST00000402722.5:c.*30A>T	ENSP00000386000.1:n.*30A>T
ENST00000403262.6:c.365A>T	ENSP00000385671.1:p.Lys122Ile
ENST00000405076.5:c.187-258A>T	ENSP00000385175.1:n.187-258A>T
ENST00000405983.5:c.410A>T	ENSP00000384586.1:p.Lys137Ile
ENST00000415514.5:c.*166A>T	ENSP00000388043.1:n.*166A>T
ENST00000426513.6:c.*30A>T	ENSP00000403824.2:n.*30A>T
ENST00000428910.5:c.287A>T	ENSP00000405235.1:p.Lys96Ile
ENST00000430991.5:c.209+176A>T
ENST00000475085.1:n.393A>T
ENST00000616446.1:n.342A>T
ENST00000616707.1:n.884A>T
ENST00000617583.4:n.391A>T
ENST00000621183.4:n.421A>T
ENST00000621470.4:n.381A>T
ENST00000622003.4:n.538A>T
NM_002437.4:c.365A>T	NP_002428.1:p.Lys122Ile
XM_005264326.2:c.365A>T	XP_005264383.1:p.Lys122Ile
XM_005264327.2:c.206A>T	XP_005264384.1:p.Lys69Ile
XM_006712021.2:c.317A>T	XP_006712084.1:p.Lys106Ile
XM_005264326.4:c.365A>T	XP_005264383.1:p.Lys122Ile
XM_006712021.3:c.317A>T	XP_006712084.1:p.Lys106Ile
XM_017004150.1:c.347A>T	XP_016859639.1:p.Lys116Ile
XM_017004151.1:c.317A>T	XP_016859640.1:p.Lys106Ile
XM_017004152.1:c.206A>T	XP_016859641.1:p.Lys69Ile
XM_024452913.1:c.317A>T	XP_024308681.1:p.Lys106Ile
NM_002437.5:c.365A>T MANE Select	NP_002428.1:p.Lys122Ile