Canonical Allele Identifier: CA1575563

Gene: MPV17

Linked Data

• dbSNP Id: rs749911111
• ExAC: 2:27535267 C / T
• gnomAD v2: 2-27535267-C-T
• gnomAD v4: 2-27312399-C-T
• MyVariant Identifiers: chr2:g.27535267C>T (hg19) ; chr2:g.27312399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312399C>T , CM000664.2:g.27312399C>T	GRCh38
NC_000002.11:g.27535267C>T , CM000664.1:g.27535267C>T	GRCh37
NC_000002.10:g.27388771C>T	NCBI36
NG_008075.1:g.15165G>A
NG_033055.1:g.864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.375+95G>A MANE Select	ENSP00000369383.1:n.375+95G>A
ENST00000233545.6:c.375+95G>A	ENSP00000233545.2:n.375+95G>A
ENST00000357186.10:c.207+95G>A	ENSP00000349713.6:n.207+95G>A
ENST00000380044.5:c.375+95G>A	ENSP00000369383.1:n.375+95G>A
ENST00000402310.5:c.375+95G>A	ENSP00000383955.1:n.375+95G>A
ENST00000402722.5:c.*40+95G>A	ENSP00000386000.1:n.*40+95G>A
ENST00000403262.6:c.375+95G>A	ENSP00000385671.1:n.375+95G>A
ENST00000405076.5:c.187-153G>A	ENSP00000385175.1:n.187-153G>A
ENST00000405983.5:c.420+95G>A	ENSP00000384586.1:n.420+95G>A
ENST00000415514.5:c.*176+95G>A	ENSP00000388043.1:n.*176+95G>A
ENST00000426513.6:c.*40+95G>A	ENSP00000403824.2:n.*40+95G>A
ENST00000428910.5:c.297+95G>A	ENSP00000405235.1:n.297+95G>A
ENST00000430991.5:c.210-153G>A
ENST00000475085.1:n.403+95G>A
ENST00000616446.1:n.447G>A
ENST00000616707.1:n.989G>A
ENST00000617583.4:n.496G>A
ENST00000620797.4:n.48+7G>A
ENST00000621183.4:n.526G>A
ENST00000621470.4:n.486G>A
ENST00000622003.4:n.643G>A
NM_002437.4:c.375+95G>A	NP_002428.1:n.375+95G>A
XM_005264326.2:c.375+95G>A	XP_005264383.1:n.375+95G>A
XM_005264327.2:c.216+95G>A	XP_005264384.1:n.216+95G>A
XM_006712021.2:c.327+95G>A	XP_006712084.1:n.327+95G>A
XM_005264326.4:c.375+95G>A	XP_005264383.1:n.375+95G>A
XM_006712021.3:c.327+95G>A	XP_006712084.1:n.327+95G>A
XM_017004150.1:c.357+95G>A	XP_016859639.1:n.357+95G>A
XM_017004151.1:c.327+95G>A	XP_016859640.1:n.327+95G>A
XM_017004152.1:c.216+95G>A	XP_016859641.1:n.216+95G>A
XM_024452913.1:c.327+95G>A	XP_024308681.1:n.327+95G>A
NM_002437.5:c.375+95G>A MANE Select	NP_002428.1:n.375+95G>A