Canonical Allele Identifier: CA1575663

Gene: MPV17

Linked Data

• dbSNP Id: rs759706929
• ExAC: 2:27535908 G / A
• gnomAD v2: 2-27535908-G-A
• gnomAD v4: 2-27313041-G-A
• MyVariant Identifiers: chr2:g.27535908G>A (hg19) ; chr2:g.27313041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313041G>A , CM000664.2:g.27313041G>A	GRCh38
NC_000002.11:g.27535908G>A , CM000664.1:g.27535908G>A	GRCh37
NC_000002.10:g.27389412G>A	NCBI36
NG_008075.1:g.14524C>T
NG_033055.1:g.223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.139C>T MANE Select	ENSP00000369383.1:p.Gln47Ter
ENST00000233545.6:c.139C>T	ENSP00000233545.2:p.Gln47Ter
ENST00000357186.10:c.19-269C>T	ENSP00000349713.6:n.19-269C>T
ENST00000380044.5:c.139C>T	ENSP00000369383.1:p.Gln47Ter
ENST00000402310.5:c.139C>T	ENSP00000383955.1:p.Gln47Ter
ENST00000402722.5:c.104C>T	ENSP00000386000.1:p.Pro35Leu
ENST00000403262.6:c.139C>T	ENSP00000385671.1:p.Gln47Ter
ENST00000405076.5:c.139C>T	ENSP00000385175.1:p.Gln47Ter
ENST00000405983.5:c.184C>T	ENSP00000384586.1:p.Gln62Ter
ENST00000415514.5:c.228-269C>T	ENSP00000388043.1:n.228-269C>T
ENST00000426513.6:c.104C>T	ENSP00000403824.2:p.Pro35Leu
ENST00000428910.5:c.61C>T	ENSP00000405235.1:p.Gln21Ter
ENST00000430991.5:c.69C>T
ENST00000616446.1:n.116C>T
ENST00000616707.1:n.347C>T
ENST00000617583.4:n.165C>T
ENST00000621183.4:n.195C>T
ENST00000621470.4:n.155C>T
ENST00000622003.4:n.312C>T
NM_002437.4:c.139C>T	NP_002428.1:p.Gln47Ter
XM_005264326.2:c.139C>T	XP_005264383.1:p.Gln47Ter
XM_005264327.2:c.-21C>T	XP_005264384.1:n.-21C>T
XM_006712021.2:c.91C>T	XP_006712084.1:p.Gln31Ter
XM_005264326.4:c.139C>T	XP_005264383.1:p.Gln47Ter
XM_006712021.3:c.91C>T	XP_006712084.1:p.Gln31Ter
XM_017004150.1:c.121C>T	XP_016859639.1:p.Gln41Ter
XM_017004151.1:c.91C>T	XP_016859640.1:p.Gln31Ter
XM_017004152.1:c.-21C>T	XP_016859641.1:n.-21C>T
XM_024452913.1:c.91C>T	XP_024308681.1:p.Gln31Ter
NM_002437.5:c.139C>T MANE Select	NP_002428.1:p.Gln47Ter