Canonical Allele Identifier: CA346209054

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312772-C-T
• MyVariant Identifiers: chr2:g.27535639C>T (hg19) ; chr2:g.27312772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312772C>T , CM000664.2:g.27312772C>T	GRCh38
NC_000002.11:g.27535639C>T , CM000664.1:g.27535639C>T	GRCh37
NC_000002.10:g.27389143C>T	NCBI36
NG_008075.1:g.14793G>A
NG_033055.1:g.492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.187G>A MANE Select	ENSP00000369383.1:p.Gly63Ser
ENST00000233545.6:c.187G>A	ENSP00000233545.2:p.Gly63Ser
ENST00000357186.10:c.19G>A	ENSP00000349713.6:p.Gly7Ser
ENST00000380044.5:c.187G>A	ENSP00000369383.1:p.Gly63Ser
ENST00000402310.5:c.187G>A	ENSP00000383955.1:p.Gly63Ser
ENST00000402722.5:c.152G>A	ENSP00000386000.1:p.Gly51Glu
ENST00000403262.6:c.187G>A	ENSP00000385671.1:p.Gly63Ser
ENST00000405076.5:c.186+222G>A	ENSP00000385175.1:n.186+222G>A
ENST00000405983.5:c.232G>A	ENSP00000384586.1:p.Gly78Ser
ENST00000415514.5:c.228G>A	ENSP00000388043.1:p.Lys76=
ENST00000426513.6:c.152G>A	ENSP00000403824.2:p.Gly51Glu
ENST00000428910.5:c.109G>A	ENSP00000405235.1:p.Gly37Ser
ENST00000430991.5:c.117G>A
ENST00000475085.1:n.215G>A
ENST00000616446.1:n.164G>A
ENST00000616707.1:n.616G>A
ENST00000617583.4:n.213G>A
ENST00000621183.4:n.243G>A
ENST00000621470.4:n.203G>A
ENST00000622003.4:n.360G>A
NM_002437.4:c.187G>A	NP_002428.1:p.Gly63Ser
XM_005264326.2:c.187G>A	XP_005264383.1:p.Gly63Ser
XM_005264327.2:c.28G>A	XP_005264384.1:p.Gly10Ser
XM_006712021.2:c.139G>A	XP_006712084.1:p.Gly47Ser
XM_005264326.4:c.187G>A	XP_005264383.1:p.Gly63Ser
XM_006712021.3:c.139G>A	XP_006712084.1:p.Gly47Ser
XM_017004150.1:c.169G>A	XP_016859639.1:p.Gly57Ser
XM_017004151.1:c.139G>A	XP_016859640.1:p.Gly47Ser
XM_017004152.1:c.28G>A	XP_016859641.1:p.Gly10Ser
XM_024452913.1:c.139G>A	XP_024308681.1:p.Gly47Ser
NM_002437.5:c.187G>A MANE Select	NP_002428.1:p.Gly63Ser