Canonical Allele Identifier: CA1575724

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322487G>A , CM000664.2:g.27322487G>A	GRCh38
NC_000002.11:g.27545354G>A , CM000664.1:g.27545354G>A	GRCh37
NC_000002.10:g.27398858G>A	NCBI36
NG_008075.1:g.5078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.31C>T MANE Select	NP_002428.1:p.Leu11=
ENST00000380044.6:c.31C>T MANE Select	ENSP00000369383.1:p.Leu11=
NM_002437.4:c.31C>T	NP_002428.1:p.Leu11=
ENST00000233545.6:c.31C>T	ENSP00000233545.2:p.Leu11=
ENST00000357186.10:c.18+1946C>T	ENSP00000349713.6:n.18+1946C>T
ENST00000380044.5:c.31C>T	ENSP00000369383.1:p.Leu11=
ENST00000399052.8:c.31C>T	ENSP00000382006.4:p.Leu11=
ENST00000402310.5:c.31C>T	ENSP00000383955.1:p.Leu11=
ENST00000402722.5:c.31C>T	ENSP00000386000.1:p.Leu11=
ENST00000403262.6:c.31C>T	ENSP00000385671.1:p.Leu11=
ENST00000405076.5:c.31C>T	ENSP00000385175.1:p.Leu11=
ENST00000405983.5:c.31C>T	ENSP00000384586.1:p.Leu11=
ENST00000415514.5:c.31C>T	ENSP00000388043.1:p.Leu11=
ENST00000426513.6:c.31C>T	ENSP00000403824.2:p.Leu11=
ENST00000428910.5:c.-172C>T	ENSP00000405235.1:n.-172C>T
ENST00000486898.1:n.82C>T
ENST00000494436.1:n.62C>T
ENST00000617583.4:n.57C>T
ENST00000621183.4:n.87C>T
ENST00000621470.4:n.82C>T
ENST00000622003.4:n.47C>T
XM_005264326.2:c.31C>T	XP_005264383.1:p.Leu11=
XM_005264326.4:c.31C>T	XP_005264383.1:p.Leu11=
XM_005264327.2:c.-94C>T	XP_005264384.1:n.-94C>T
XM_006712021.2:c.-175C>T	XP_006712084.1:n.-175C>T
XM_006712021.3:c.-175C>T	XP_006712084.1:n.-175C>T
XM_017004150.1:c.-3222C>T	XP_016859639.1:n.-3222C>T
XM_017004151.1:c.-114C>T	XP_016859640.1:n.-114C>T
XM_017004152.1:c.-251C>T	XP_016859641.1:n.-251C>T
XM_024452913.1:c.-175C>T	XP_024308681.1:n.-175C>T