Canonical Allele Identifier: CA2749263185

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312632A>G , CM000664.2:g.27312632A>G	GRCh38
NC_000002.11:g.27535499A>G , CM000664.1:g.27535499A>G	GRCh37
NC_000002.10:g.27389003A>G	NCBI36
NG_008075.1:g.14933T>C
NG_033055.1:g.632T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.280-43T>C MANE Select	ENSP00000369383.1:n.280-43T>C
ENST00000233545.6:c.280-43T>C	ENSP00000233545.2:n.280-43T>C
ENST00000357186.10:c.112-43T>C	ENSP00000349713.6:n.112-43T>C
ENST00000380044.5:c.280-43T>C	ENSP00000369383.1:n.280-43T>C
ENST00000402310.5:c.280-43T>C	ENSP00000383955.1:n.280-43T>C
ENST00000402722.5:c.245-43T>C	ENSP00000386000.1:n.245-43T>C
ENST00000403262.6:c.280-43T>C	ENSP00000385671.1:n.280-43T>C
ENST00000405076.5:c.186+362T>C	ENSP00000385175.1:n.186+362T>C
ENST00000405983.5:c.325-43T>C	ENSP00000384586.1:n.325-43T>C
ENST00000415514.5:c.*81-43T>C	ENSP00000388043.1:n.*81-43T>C
ENST00000426513.6:c.245-43T>C	ENSP00000403824.2:n.245-43T>C
ENST00000428910.5:c.202-43T>C	ENSP00000405235.1:n.202-43T>C
ENST00000430991.5:c.209+48T>C
ENST00000475085.1:n.308-43T>C
ENST00000616446.1:n.257-43T>C
ENST00000616707.1:n.756T>C
ENST00000617583.4:n.306-43T>C
ENST00000621183.4:n.336-43T>C
ENST00000621470.4:n.296-43T>C
ENST00000622003.4:n.453-43T>C
NM_002437.4:c.280-43T>C	NP_002428.1:n.280-43T>C
XM_005264326.2:c.280-43T>C	XP_005264383.1:n.280-43T>C
XM_005264327.2:c.121-43T>C	XP_005264384.1:n.121-43T>C
XM_006712021.2:c.232-43T>C	XP_006712084.1:n.232-43T>C
XM_005264326.4:c.280-43T>C	XP_005264383.1:n.280-43T>C
XM_006712021.3:c.232-43T>C	XP_006712084.1:n.232-43T>C
XM_017004150.1:c.262-43T>C	XP_016859639.1:n.262-43T>C
XM_017004151.1:c.232-43T>C	XP_016859640.1:n.232-43T>C
XM_017004152.1:c.121-43T>C	XP_016859641.1:n.121-43T>C
XM_024452913.1:c.232-43T>C	XP_024308681.1:n.232-43T>C
NM_002437.5:c.280-43T>C MANE Select	NP_002428.1:n.280-43T>C