Canonical Allele Identifier: CA346207820

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535371T>G (hg19) ; chr2:g.27312504T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.365A>C MANE Select	ENSP00000369383.1:p.Lys122Thr
ENST00000233545.6:c.365A>C	ENSP00000233545.2:p.Lys122Thr
ENST00000357186.10:c.197A>C	ENSP00000349713.6:p.Lys66Thr
ENST00000380044.5:c.365A>C	ENSP00000369383.1:p.Lys122Thr
ENST00000402310.5:c.365A>C	ENSP00000383955.1:p.Lys122Thr
ENST00000402722.5:c.*30A>C	ENSP00000386000.1:n.*30A>C
ENST00000403262.6:c.365A>C	ENSP00000385671.1:p.Lys122Thr
ENST00000405076.5:c.187-258A>C	ENSP00000385175.1:n.187-258A>C
ENST00000405983.5:c.410A>C	ENSP00000384586.1:p.Lys137Thr
ENST00000415514.5:c.*166A>C	ENSP00000388043.1:n.*166A>C
ENST00000426513.6:c.*30A>C	ENSP00000403824.2:n.*30A>C
ENST00000428910.5:c.287A>C	ENSP00000405235.1:p.Lys96Thr
ENST00000430991.5:c.209+176A>C
ENST00000475085.1:n.393A>C
ENST00000616446.1:n.342A>C
ENST00000616707.1:n.884A>C
ENST00000617583.4:n.391A>C
ENST00000621183.4:n.421A>C
ENST00000621470.4:n.381A>C
ENST00000622003.4:n.538A>C
NM_002437.4:c.365A>C	NP_002428.1:p.Lys122Thr
XM_005264326.2:c.365A>C	XP_005264383.1:p.Lys122Thr
XM_005264327.2:c.206A>C	XP_005264384.1:p.Lys69Thr
XM_006712021.2:c.317A>C	XP_006712084.1:p.Lys106Thr
XM_005264326.4:c.365A>C	XP_005264383.1:p.Lys122Thr
XM_006712021.3:c.317A>C	XP_006712084.1:p.Lys106Thr
XM_017004150.1:c.347A>C	XP_016859639.1:p.Lys116Thr
XM_017004151.1:c.317A>C	XP_016859640.1:p.Lys106Thr
XM_017004152.1:c.206A>C	XP_016859641.1:p.Lys69Thr
XM_024452913.1:c.317A>C	XP_024308681.1:p.Lys106Thr
NM_002437.5:c.365A>C MANE Select	NP_002428.1:p.Lys122Thr