Canonical Allele Identifier: CA1575514

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311932A>C , CM000664.2:g.27311932A>C	GRCh38
NC_000002.11:g.27534800A>C , CM000664.1:g.27534800A>C	GRCh37
NC_000002.10:g.27388304A>C	NCBI36
NG_008075.1:g.15632T>G
NG_033055.1:g.1331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.428T>G MANE Select	ENSP00000369383.1:p.Leu143Ter
ENST00000233545.6:c.428T>G	ENSP00000233545.2:p.Leu143Ter
ENST00000357186.10:c.260T>G	ENSP00000349713.6:p.Leu87Ter
ENST00000380044.5:c.428T>G	ENSP00000369383.1:p.Leu143Ter
ENST00000402310.5:c.408+282T>G	ENSP00000383955.1:n.408+282T>G
ENST00000402722.5:c.*40+562T>G	ENSP00000386000.1:n.*40+562T>G
ENST00000403262.6:c.428T>G	ENSP00000385671.1:p.Leu143Ter
ENST00000405076.5:c.239T>G	ENSP00000385175.1:p.Leu80Ter
ENST00000405983.5:c.473T>G	ENSP00000384586.1:p.Leu158Ter
ENST00000415514.5:c.*229T>G	ENSP00000388043.1:n.*229T>G
ENST00000426513.6:c.*93T>G	ENSP00000403824.2:n.*93T>G
ENST00000430991.5:c.262T>G
ENST00000616707.1:n.1456T>G
ENST00000617583.4:n.963T>G
ENST00000620797.4:n.101T>G
ENST00000621183.4:n.731T>G
NM_002437.4:c.428T>G	NP_002428.1:p.Leu143Ter
XM_005264326.2:c.428T>G	XP_005264383.1:p.Leu143Ter
XM_005264327.2:c.269T>G	XP_005264384.1:p.Leu90Ter
XM_006712021.2:c.380T>G	XP_006712084.1:p.Leu127Ter
XM_005264326.4:c.428T>G	XP_005264383.1:p.Leu143Ter
XM_006712021.3:c.380T>G	XP_006712084.1:p.Leu127Ter
XM_017004150.1:c.410T>G	XP_016859639.1:p.Leu137Ter
XM_017004151.1:c.380T>G	XP_016859640.1:p.Leu127Ter
XM_017004152.1:c.269T>G	XP_016859641.1:p.Leu90Ter
XM_024452913.1:c.380T>G	XP_024308681.1:p.Leu127Ter
NM_002437.5:c.428T>G MANE Select	NP_002428.1:p.Leu143Ter