Canonical Allele Identifier: CA1240221727

Gene: MPV17

Linked Data

• dbSNP Id: rs1679912265

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322989C>T , CM000664.2:g.27322989C>T	GRCh38
NC_000002.11:g.27545856C>T , CM000664.1:g.27545856C>T	GRCh37
NC_000002.10:g.27399360C>T	NCBI36
NG_008075.1:g.4576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-6+63G>A MANE Select	ENSP00000369383.1:n.-6+63G>A
ENST00000357186.10:c.18+1444G>A	ENSP00000349713.6:n.18+1444G>A
ENST00000380044.5:c.-6+63G>A	ENSP00000369383.1:n.-6+63G>A
ENST00000399052.8:c.-6+63G>A	ENSP00000382006.4:n.-6+63G>A
ENST00000402310.5:c.-6+63G>A	ENSP00000383955.1:n.-6+63G>A
ENST00000402722.5:c.-6+63G>A	ENSP00000386000.1:n.-6+63G>A
ENST00000403262.6:c.-6+63G>A	ENSP00000385671.1:n.-6+63G>A
ENST00000405076.5:c.-6+63G>A	ENSP00000385175.1:n.-6+63G>A
ENST00000405983.5:c.-6+63G>A	ENSP00000384586.1:n.-6+63G>A
ENST00000415514.5:c.-6+63G>A	ENSP00000388043.1:n.-6+63G>A
ENST00000426513.6:c.-6+63G>A	ENSP00000403824.2:n.-6+63G>A
ENST00000428910.5:c.-208+63G>A	ENSP00000405235.1:n.-208+63G>A
ENST00000486898.1:n.46+63G>A
ENST00000494436.1:n.26+63G>A
ENST00000617583.4:n.21+63G>A
ENST00000621183.4:n.51+63G>A
ENST00000621470.4:n.46+63G>A
ENST00000622003.4:n.11+63G>A
NM_002437.4:c.-6+63G>A	NP_002428.1:n.-6+63G>A
XM_005264326.2:c.-6+1G>A	XP_005264383.1:n.-6+1G>A
XM_005264327.2:c.-130+63G>A	XP_005264384.1:n.-130+63G>A
XM_006712021.2:c.-211+63G>A	XP_006712084.1:n.-211+63G>A
XM_005264326.4:c.-6+1G>A	XP_005264383.1:n.-6+1G>A
XM_006712021.3:c.-211+63G>A	XP_006712084.1:n.-211+63G>A
XM_017004150.1:c.-3258+63G>A	XP_016859639.1:n.-3258+63G>A
XM_024452913.1:c.-211+1G>A	XP_024308681.1:n.-211+1G>A
NM_002437.5:c.-6+63G>A MANE Select	NP_002428.1:n.-6+63G>A