Canonical Allele Identifier: CA1028670109

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2107094
• ClinVar RCV Id: RCV003045538
• dbSNP Id: rs1679493383
• gnomAD v3: 2-27312609-G-A
• gnomAD v4: 2-27312609-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312609G>A , CM000664.2:g.27312609G>A	GRCh38
NC_000002.11:g.27535476G>A , CM000664.1:g.27535476G>A	GRCh37
NC_000002.10:g.27388980G>A	NCBI36
NG_008075.1:g.14956C>T
NG_033055.1:g.655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.280-20C>T MANE Select	ENSP00000369383.1:n.280-20C>T
ENST00000233545.6:c.280-20C>T	ENSP00000233545.2:n.280-20C>T
ENST00000357186.10:c.112-20C>T	ENSP00000349713.6:n.112-20C>T
ENST00000380044.5:c.280-20C>T	ENSP00000369383.1:n.280-20C>T
ENST00000402310.5:c.280-20C>T	ENSP00000383955.1:n.280-20C>T
ENST00000402722.5:c.245-20C>T	ENSP00000386000.1:n.245-20C>T
ENST00000403262.6:c.280-20C>T	ENSP00000385671.1:n.280-20C>T
ENST00000405076.5:c.187-363C>T	ENSP00000385175.1:n.187-363C>T
ENST00000405983.5:c.325-20C>T	ENSP00000384586.1:n.325-20C>T
ENST00000415514.5:c.*81-20C>T	ENSP00000388043.1:n.*81-20C>T
ENST00000426513.6:c.245-20C>T	ENSP00000403824.2:n.245-20C>T
ENST00000428910.5:c.202-20C>T	ENSP00000405235.1:n.202-20C>T
ENST00000430991.5:c.209+71C>T
ENST00000475085.1:n.308-20C>T
ENST00000616446.1:n.257-20C>T
ENST00000616707.1:n.779C>T
ENST00000617583.4:n.306-20C>T
ENST00000621183.4:n.336-20C>T
ENST00000621470.4:n.296-20C>T
ENST00000622003.4:n.453-20C>T
NM_002437.4:c.280-20C>T	NP_002428.1:n.280-20C>T
XM_005264326.2:c.280-20C>T	XP_005264383.1:n.280-20C>T
XM_005264327.2:c.121-20C>T	XP_005264384.1:n.121-20C>T
XM_006712021.2:c.232-20C>T	XP_006712084.1:n.232-20C>T
XM_005264326.4:c.280-20C>T	XP_005264383.1:n.280-20C>T
XM_006712021.3:c.232-20C>T	XP_006712084.1:n.232-20C>T
XM_017004150.1:c.262-20C>T	XP_016859639.1:n.262-20C>T
XM_017004151.1:c.232-20C>T	XP_016859640.1:n.232-20C>T
XM_017004152.1:c.121-20C>T	XP_016859641.1:n.121-20C>T
XM_024452913.1:c.232-20C>T	XP_024308681.1:n.232-20C>T
NM_002437.5:c.280-20C>T MANE Select	NP_002428.1:n.280-20C>T