Canonical Allele Identifier: CA2576929255

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312936G>T , CM000664.2:g.27312936G>T	GRCh38
NC_000002.11:g.27535803G>T , CM000664.1:g.27535803G>T	GRCh37
NC_000002.10:g.27389307G>T	NCBI36
NG_008075.1:g.14629C>A
NG_033055.1:g.328C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.186+58C>A MANE Select	ENSP00000369383.1:n.186+58C>A
ENST00000233545.6:c.186+58C>A	ENSP00000233545.2:n.186+58C>A
ENST00000357186.10:c.19-164C>A	ENSP00000349713.6:n.19-164C>A
ENST00000380044.5:c.186+58C>A	ENSP00000369383.1:n.186+58C>A
ENST00000402310.5:c.186+58C>A	ENSP00000383955.1:n.186+58C>A
ENST00000402722.5:c.151+58C>A	ENSP00000386000.1:n.151+58C>A
ENST00000403262.6:c.186+58C>A	ENSP00000385671.1:n.186+58C>A
ENST00000405076.5:c.186+58C>A	ENSP00000385175.1:n.186+58C>A
ENST00000405983.5:c.231+58C>A	ENSP00000384586.1:n.231+58C>A
ENST00000415514.5:c.228-164C>A	ENSP00000388043.1:n.228-164C>A
ENST00000426513.6:c.151+58C>A	ENSP00000403824.2:n.151+58C>A
ENST00000428910.5:c.108+58C>A	ENSP00000405235.1:n.108+58C>A
ENST00000430991.5:c.116+58C>A
ENST00000475085.1:n.51C>A
ENST00000616446.1:n.163+58C>A
ENST00000616707.1:n.452C>A
ENST00000617583.4:n.212+58C>A
ENST00000621183.4:n.242+58C>A
ENST00000621470.4:n.202+58C>A
ENST00000622003.4:n.359+58C>A
NM_002437.4:c.186+58C>A	NP_002428.1:n.186+58C>A
XM_005264326.2:c.186+58C>A	XP_005264383.1:n.186+58C>A
XM_005264327.2:c.27+58C>A	XP_005264384.1:n.27+58C>A
XM_006712021.2:c.138+58C>A	XP_006712084.1:n.138+58C>A
XM_005264326.4:c.186+58C>A	XP_005264383.1:n.186+58C>A
XM_006712021.3:c.138+58C>A	XP_006712084.1:n.138+58C>A
XM_017004150.1:c.168+58C>A	XP_016859639.1:n.168+58C>A
XM_017004151.1:c.138+58C>A	XP_016859640.1:n.138+58C>A
XM_017004152.1:c.27+58C>A	XP_016859641.1:n.27+58C>A
XM_024452913.1:c.138+58C>A	XP_024308681.1:n.138+58C>A
NM_002437.5:c.186+58C>A MANE Select	NP_002428.1:n.186+58C>A