Canonical Allele Identifier: CA12654380
Gene: POT1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.124898561C>T
GRCh37 chr7:g.124538615C>T
gnomAD v2:
7:124538615 C / T
gnomAD v3:
7:124898561 C / T
gnomAD v4:
chr7-124898561-C-T
Joint Max Group AF 0.38020281 (SAS)
Genomes Max Group AF 0.38020281 (SAS)
ClinVar RCV:
RCV000838479
ClinVar Variation:
678869
dbSNP:
33964002
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124898561C>T , CM000669.2:g.124898561C>T GRCh38
NC_000007.13:g.124538615C>T , CM000669.1:g.124538615C>T GRCh37
NC_000007.12:g.124325851C>T NCBI36
NG_029232.1:g.36423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357628.8:c.-153-187G>A MANE Select ENSP00000350249.3:n.-153-187G>A
ENST00000429326.6:c.-153-187G>A ENSP00000403088.1:n.-153-187G>A
ENST00000430927.6:c.-153-187G>A ENSP00000397632.2:n.-153-187G>A
ENST00000446993.6:c.-384-6181G>A ENSP00000388921.2:n.-384-6181G>A
ENST00000653241.1:c.-153-187G>A ENSP00000499476.1:n.-153-187G>A
ENST00000653274.1:c.-153-187G>A ENSP00000499382.1:n.-153-187G>A
ENST00000653819.1:c.-289-187G>A ENSP00000499533.1:n.-289-187G>A
ENST00000653892.1:c.-153-187G>A ENSP00000499506.1:n.-153-187G>A
ENST00000654766.1:c.-153-187G>A ENSP00000499395.1:n.-153-187G>A
ENST00000655761.1:c.-289-187G>A ENSP00000499635.1:n.-289-187G>A
ENST00000657333.1:c.-153-187G>A ENSP00000499425.1:n.-153-187G>A
ENST00000657892.1:c.-153-187G>A ENSP00000499524.1:n.-153-187G>A
ENST00000661898.1:c.-153-187G>A ENSP00000499528.1:n.-153-187G>A
ENST00000662531.1:c.-153-187G>A ENSP00000499488.1:n.-153-187G>A
ENST00000664330.1:c.-153-187G>A ENSP00000499781.1:n.-153-187G>A
ENST00000664366.1:c.-153-187G>A ENSP00000499290.1:n.-153-187G>A
ENST00000668382.1:c.-153-187G>A ENSP00000499546.1:n.-153-187G>A
ENST00000669195.1:n.301-187G>A
ENST00000357628.7:c.-153-187G>A ENSP00000350249.3:n.-153-187G>A
ENST00000393329.5:c.-415-187G>A ENSP00000377002.1:n.-415-187G>A
ENST00000446993.5:c.-153-187G>A ENSP00000388921.1:n.-153-187G>A
ENST00000461288.1:n.604-187G>A
ENST00000608261.5:n.291-187G>A
ENST00000608437.5:n.288-187G>A
ENST00000609106.5:c.-153-187G>A ENSP00000476981.1:n.-153-187G>A
ENST00000609702.5:c.-153-187G>A ENSP00000477258.1:n.-153-187G>A
NM_001042594.1:c.-415-187G>A NP_001036059.1:n.-415-187G>A
NM_015450.2:c.-153-187G>A NP_056265.2:n.-153-187G>A
NR_003102.1:n.449-187G>A
NR_003103.1:n.449-187G>A
NR_003104.1:n.449-187G>A
XM_006715917.2:c.-153-187G>A XP_006715980.1:n.-153-187G>A
XM_011516006.1:c.-660-187G>A XP_011514308.1:n.-660-187G>A
XM_011516007.1:c.-660-187G>A XP_011514309.1:n.-660-187G>A
XM_006715917.4:c.-153-187G>A XP_006715980.1:n.-153-187G>A
XM_017011942.2:c.-415-187G>A XP_016867431.1:n.-415-187G>A
XR_001744618.1:n.439-187G>A
XR_001744619.2:n.439-187G>A
NM_015450.3:c.-153-187G>A MANE Select NP_056265.2:n.-153-187G>A
NM_001042594.2:c.-415-187G>A NP_001036059.1:n.-415-187G>A
NR_003102.2:n.291-187G>A
NR_003103.2:n.291-187G>A
NR_003104.2:n.291-187G>A
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