Canonical Allele Identifier: CA10665532
Gene: UBXN11 HGNC NCBI
COSMIC:
COSN6451720 (not active)
MyVariant.info:
GRCh38 chr1:g.26293158C>T
GRCh37 chr1:g.26619649C>T
gnomAD v2:
1:26619649 C / T
gnomAD v3:
1:26293158 C / T
gnomAD v4:
chr1-26293158-C-T
Joint Max Group AF 0.48562251 (AFR)
Genomes Max Group AF 0.48562251 (AFR)
dbSNP:
6598955
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26293158C>T , CM000663.2:g.26293158C>T GRCh38
NC_000001.10:g.26619649C>T , CM000663.1:g.26619649C>T GRCh37
NC_000001.9:g.26492236C>T NCBI36
NG_028986.1:g.30108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374217.7:c.460+1047G>A ENSP00000363334.2:n.460+1047G>A
ENST00000374222.6:c.559+1047G>A MANE Select ENSP00000363339.1:n.559+1047G>A
ENST00000450041.6:c.334+1047G>A ENSP00000413448.2:n.334+1047G>A
ENST00000314675.11:c.200-7121G>A ENSP00000324721.7:n.200-7121G>A
ENST00000357089.8:c.460+1047G>A ENSP00000349601.4:n.460+1047G>A
ENST00000374215.5:c.445+1047G>A ENSP00000363332.1:n.445+1047G>A
ENST00000374217.6:c.460+1047G>A ENSP00000363334.2:n.460+1047G>A
ENST00000374221.7:c.559+1047G>A ENSP00000363338.3:n.559+1047G>A
ENST00000374222.5:c.559+1047G>A ENSP00000363339.1:n.559+1047G>A
ENST00000374223.5:c.-171+3761G>A ENSP00000363340.1:n.-171+3761G>A
ENST00000442942.6:c.460+1047G>A ENSP00000404956.2:n.460+1047G>A
ENST00000452980.5:c.460+1047G>A ENSP00000410357.1:n.460+1047G>A
ENST00000472155.5:n.643+1047G>A
ENST00000475591.5:n.540+1047G>A
ENST00000494942.5:n.325+1047G>A
ENST00000496466.1:n.324+1047G>A
NM_001077262.1:c.200-7121G>A NP_001070730.1:n.200-7121G>A
NM_145345.2:c.460+1047G>A NP_663320.2:n.460+1047G>A
NM_183008.2:c.559+1047G>A NP_892120.2:n.559+1047G>A
NM_001077262.2:c.200-7121G>A NP_001070730.1:n.200-7121G>A
NM_001389556.1:c.559+1047G>A MANE Select NP_001376485.1:n.559+1047G>A
NM_001389559.1:c.460+1047G>A NP_001376488.1:n.460+1047G>A
NM_145345.3:c.460+1047G>A NP_663320.2:n.460+1047G>A
NM_183008.3:c.559+1047G>A NP_892120.2:n.559+1047G>A
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