Canonical Allele Identifier: CA346208542

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312696T>G , CM000664.2:g.27312696T>G	GRCh38
NC_000002.11:g.27535563T>G , CM000664.1:g.27535563T>G	GRCh37
NC_000002.10:g.27389067T>G	NCBI36
NG_008075.1:g.14869A>C
NG_033055.1:g.568A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.263A>C MANE Select	NP_002428.1:p.Lys88Thr
ENST00000380044.6:c.263A>C MANE Select	ENSP00000369383.1:p.Lys88Thr
NM_002437.4:c.263A>C	NP_002428.1:p.Lys88Thr
ENST00000233545.6:c.263A>C	ENSP00000233545.2:p.Lys88Thr
ENST00000357186.10:c.95A>C	ENSP00000349713.6:p.Lys32Thr
ENST00000380044.5:c.263A>C	ENSP00000369383.1:p.Lys88Thr
ENST00000402310.5:c.263A>C	ENSP00000383955.1:p.Lys88Thr
ENST00000402722.5:c.228A>C	ENSP00000386000.1:p.Glu76Asp
ENST00000403262.6:c.263A>C	ENSP00000385671.1:p.Lys88Thr
ENST00000405076.5:c.186+298A>C	ENSP00000385175.1:n.186+298A>C
ENST00000405983.5:c.308A>C	ENSP00000384586.1:p.Lys103Thr
ENST00000415514.5:c.*64A>C	ENSP00000388043.1:n.*64A>C
ENST00000426513.6:c.228A>C	ENSP00000403824.2:p.Glu76Asp
ENST00000428910.5:c.185A>C	ENSP00000405235.1:p.Lys62Thr
ENST00000430991.5:c.193A>C
ENST00000475085.1:n.291A>C
ENST00000616446.1:n.240A>C
ENST00000616707.1:n.692A>C
ENST00000617583.4:n.289A>C
ENST00000621183.4:n.319A>C
ENST00000621470.4:n.279A>C
ENST00000622003.4:n.436A>C
XM_005264326.2:c.263A>C	XP_005264383.1:p.Lys88Thr
XM_005264326.4:c.263A>C	XP_005264383.1:p.Lys88Thr
XM_005264327.2:c.104A>C	XP_005264384.1:p.Lys35Thr
XM_006712021.2:c.215A>C	XP_006712084.1:p.Lys72Thr
XM_006712021.3:c.215A>C	XP_006712084.1:p.Lys72Thr
XM_017004150.1:c.245A>C	XP_016859639.1:p.Lys82Thr
XM_017004151.1:c.215A>C	XP_016859640.1:p.Lys72Thr
XM_017004152.1:c.104A>C	XP_016859641.1:p.Lys35Thr
XM_024452913.1:c.215A>C	XP_024308681.1:p.Lys72Thr