Canonical Allele Identifier: CA2749263198

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312927C>A , CM000664.2:g.27312927C>A	GRCh38
NC_000002.11:g.27535794C>A , CM000664.1:g.27535794C>A	GRCh37
NC_000002.10:g.27389298C>A	NCBI36
NG_008075.1:g.14638G>T
NG_033055.1:g.337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.186+67G>T MANE Select	ENSP00000369383.1:n.186+67G>T
ENST00000233545.6:c.186+67G>T	ENSP00000233545.2:n.186+67G>T
ENST00000357186.10:c.19-155G>T	ENSP00000349713.6:n.19-155G>T
ENST00000380044.5:c.186+67G>T	ENSP00000369383.1:n.186+67G>T
ENST00000402310.5:c.186+67G>T	ENSP00000383955.1:n.186+67G>T
ENST00000402722.5:c.151+67G>T	ENSP00000386000.1:n.151+67G>T
ENST00000403262.6:c.186+67G>T	ENSP00000385671.1:n.186+67G>T
ENST00000405076.5:c.186+67G>T	ENSP00000385175.1:n.186+67G>T
ENST00000405983.5:c.231+67G>T	ENSP00000384586.1:n.231+67G>T
ENST00000415514.5:c.228-155G>T	ENSP00000388043.1:n.228-155G>T
ENST00000426513.6:c.151+67G>T	ENSP00000403824.2:n.151+67G>T
ENST00000428910.5:c.108+67G>T	ENSP00000405235.1:n.108+67G>T
ENST00000430991.5:c.116+67G>T
ENST00000475085.1:n.60G>T
ENST00000616446.1:n.163+67G>T
ENST00000616707.1:n.461G>T
ENST00000617583.4:n.212+67G>T
ENST00000621183.4:n.242+67G>T
ENST00000621470.4:n.202+67G>T
ENST00000622003.4:n.359+67G>T
NM_002437.4:c.186+67G>T	NP_002428.1:n.186+67G>T
XM_005264326.2:c.186+67G>T	XP_005264383.1:n.186+67G>T
XM_005264327.2:c.27+67G>T	XP_005264384.1:n.27+67G>T
XM_006712021.2:c.138+67G>T	XP_006712084.1:n.138+67G>T
XM_005264326.4:c.186+67G>T	XP_005264383.1:n.186+67G>T
XM_006712021.3:c.138+67G>T	XP_006712084.1:n.138+67G>T
XM_017004150.1:c.168+67G>T	XP_016859639.1:n.168+67G>T
XM_017004151.1:c.138+67G>T	XP_016859640.1:n.138+67G>T
XM_017004152.1:c.27+67G>T	XP_016859641.1:n.27+67G>T
XM_024452913.1:c.138+67G>T	XP_024308681.1:n.138+67G>T
NM_002437.5:c.186+67G>T MANE Select	NP_002428.1:n.186+67G>T