Canonical Allele Identifier: CA8414277
Gene: MPRIP HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17057664G>A , CM000679.2:g.17057664G>A GRCh38
NC_000017.10:g.16960978G>A , CM000679.1:g.16960978G>A GRCh37
NC_000017.9:g.16901703G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651222.2:c.123+14693G>A MANE Select ENSP00000498253.1:n.123+14693G>A
ENST00000341712.8:c.123+14693G>A ENSP00000342379.4:n.123+14693G>A
ENST00000395806.5:c.152G>A ENSP00000379151.1:p.Arg51His
ENST00000395807.2:n.212+14693G>A
ENST00000395811.9:c.123+14693G>A ENSP00000379156.4:n.123+14693G>A
ENST00000577514.5:c.123+14693G>A ENSP00000462532.1:n.123+14693G>A
NM_015134.3:c.123+14693G>A NP_055949.2:n.123+14693G>A
NM_201274.3:c.123+14693G>A NP_958431.2:n.123+14693G>A
XM_005256563.3:c.219+14693G>A XP_005256620.1:n.219+14693G>A
XM_005256564.3:c.123+14693G>A XP_005256621.2:n.123+14693G>A
XM_011523761.1:c.219+14693G>A XP_011522063.1:n.219+14693G>A
XM_011523762.1:c.219+14693G>A XP_011522064.1:n.219+14693G>A
XM_011523763.1:c.219+14693G>A XP_011522065.1:n.219+14693G>A
XM_011523764.1:c.219+14693G>A XP_011522066.1:n.219+14693G>A
XM_011523765.1:c.219+14693G>A XP_011522067.1:n.219+14693G>A
XM_011523766.1:c.123+14693G>A XP_011522068.1:n.123+14693G>A
XM_011523767.1:c.123+14693G>A XP_011522069.1:n.123+14693G>A
NM_001364716.1:c.219+14693G>A NP_001351645.1:n.219+14693G>A
XM_005256563.4:c.219+14693G>A XP_005256620.1:n.219+14693G>A
XM_005256564.4:c.219+14693G>A XP_005256621.3:n.219+14693G>A
XM_011523762.2:c.219+14693G>A XP_011522064.1:n.219+14693G>A
XM_011523763.2:c.219+14693G>A XP_011522065.1:n.219+14693G>A
XM_011523764.2:c.219+14693G>A XP_011522066.1:n.219+14693G>A
XM_011523765.2:c.219+14693G>A XP_011522067.1:n.219+14693G>A
XM_011523766.2:c.219+14693G>A XP_011522068.2:n.219+14693G>A
XM_011523767.2:c.219+14693G>A XP_011522069.2:n.219+14693G>A
XM_017024393.1:c.219+14693G>A XP_016879882.1:n.219+14693G>A
NM_001364716.2:c.219+14693G>A NP_001351645.1:n.219+14693G>A
NM_015134.4:c.123+14693G>A NP_055949.2:n.123+14693G>A
NM_201274.4:c.123+14693G>A NP_958431.2:n.123+14693G>A
NM_001364716.4:c.123+14693G>A MANE Select NP_001351645.2:n.123+14693G>A