Canonical Allele Identifier: CA166091933
Gene: POT1 HGNC NCBI

Linked Data

dbSNP Id: rs4360236
gnomAD v2: 7-124526739-C-T
gnomAD v3: 7-124886685-C-T
gnomAD v4: 7-124886685-C-T
MyVariant Identifiers: chr7:g.124526739C>T (hg19) chr7:g.124886685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124886685C>T , CM000669.2:g.124886685C>T GRCh38
NC_000007.13:g.124526739C>T , CM000669.1:g.124526739C>T GRCh37
NC_000007.12:g.124313975C>T NCBI36
NG_029232.1:g.48299G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357628.8:c.124+5581G>A MANE Select ENSP00000350249.3:n.124+5581G>A
ENST00000429326.6:c.124+5581G>A ENSP00000403088.1:n.124+5581G>A
ENST00000430927.6:c.124+5581G>A ENSP00000397632.2:n.124+5581G>A
ENST00000446993.6:c.-270+5581G>A ENSP00000388921.2:n.-270+5581G>A
ENST00000653241.1:c.124+5581G>A ENSP00000499476.1:n.124+5581G>A
ENST00000653274.1:c.124+5581G>A ENSP00000499382.1:n.124+5581G>A
ENST00000653819.1:c.124+5581G>A ENSP00000499533.1:n.124+5581G>A
ENST00000653892.1:c.124+5581G>A ENSP00000499506.1:n.124+5581G>A
ENST00000654766.1:c.124+5581G>A ENSP00000499395.1:n.124+5581G>A
ENST00000655761.1:c.124+5581G>A ENSP00000499635.1:n.124+5581G>A
ENST00000657333.1:c.124+5581G>A ENSP00000499425.1:n.124+5581G>A
ENST00000657892.1:c.124+5581G>A ENSP00000499524.1:n.124+5581G>A
ENST00000661898.1:c.124+5581G>A ENSP00000499528.1:n.124+5581G>A
ENST00000662531.1:c.125-4219G>A ENSP00000499488.1:n.125-4219G>A
ENST00000664330.1:c.124+5581G>A ENSP00000499781.1:n.124+5581G>A
ENST00000664366.1:c.124+5581G>A ENSP00000499290.1:n.124+5581G>A
ENST00000668382.1:c.124+5581G>A ENSP00000499546.1:n.124+5581G>A
ENST00000669195.1:n.577+5581G>A
ENST00000357628.7:c.124+5581G>A ENSP00000350249.3:n.124+5581G>A
ENST00000393329.5:c.-139+5581G>A ENSP00000377002.1:n.-139+5581G>A
ENST00000429326.5:c.124+5581G>A ENSP00000403088.1:n.124+5581G>A
ENST00000446993.5:c.124+5581G>A ENSP00000388921.1:n.124+5581G>A
ENST00000607932.5:c.124+5581G>A ENSP00000476506.1:n.124+5581G>A
ENST00000608057.5:c.124+5581G>A ENSP00000476371.1:n.124+5581G>A
ENST00000609106.5:c.124+5581G>A ENSP00000476981.1:n.124+5581G>A
ENST00000609702.5:c.124+5581G>A ENSP00000477258.1:n.124+5581G>A
NM_001042594.1:c.-139+5581G>A NP_001036059.1:n.-139+5581G>A
NM_015450.2:c.124+5581G>A NP_056265.2:n.124+5581G>A
NR_003102.1:n.725+5581G>A
NR_003103.1:n.725+5581G>A
NR_003104.1:n.725+5581G>A
XM_006715917.2:c.124+5581G>A XP_006715980.1:n.124+5581G>A
XM_011516006.1:c.-270+5581G>A XP_011514308.1:n.-270+5581G>A
XM_011516007.1:c.-270+5581G>A XP_011514309.1:n.-270+5581G>A
XM_006715917.4:c.124+5581G>A XP_006715980.1:n.124+5581G>A
XM_017011942.2:c.-139+5581G>A XP_016867431.1:n.-139+5581G>A
XR_001744618.1:n.715+5581G>A
XR_001744619.2:n.715+5581G>A
NM_015450.3:c.124+5581G>A MANE Select NP_056265.2:n.124+5581G>A
NM_001042594.2:c.-139+5581G>A NP_001036059.1:n.-139+5581G>A
NR_003102.2:n.567+5581G>A
NR_003103.2:n.567+5581G>A
NR_003104.2:n.567+5581G>A
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