Canonical Allele Identifier: CA15489477
Gene: POT1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124822607C>T , CM000669.2:g.124822607C>T GRCh38
NC_000007.13:g.124462661C>T , CM000669.1:g.124462661C>T GRCh37
NC_000007.12:g.124249897C>T NCBI36
NG_029232.1:g.112377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357628.8:c.*1355G>A MANE Select ENSP00000350249.3:n.*1355G>A
ENST00000430927.6:c.*425-56G>A ENSP00000397632.2:n.*425-56G>A
ENST00000357628.7:c.*1355G>A ENSP00000350249.3:n.*1355G>A
ENST00000393329.5:c.*1355G>A ENSP00000377002.1:n.*1355G>A
ENST00000430927.5:c.422-56G>A
ENST00000436534.5:c.392-56G>A
NM_001042594.1:c.*1355G>A NP_001036059.1:n.*1355G>A
NM_015450.2:c.*1355G>A NP_056265.2:n.*1355G>A
NR_003102.1:n.3981G>A
NR_003103.1:n.3772G>A
NR_003104.1:n.3958G>A
XM_006715917.2:c.*1355G>A XP_006715980.1:n.*1355G>A
XM_011516006.1:c.*1355G>A XP_011514308.1:n.*1355G>A
XM_011516007.1:c.*1355G>A XP_011514309.1:n.*1355G>A
XM_017011942.2:c.*1355G>A XP_016867431.1:n.*1355G>A
XR_001744618.1:n.3762G>A
XR_001744619.2:n.3631G>A
NM_015450.3:c.*1355G>A MANE Select NP_056265.2:n.*1355G>A
NM_001042594.2:c.*1355G>A NP_001036059.1:n.*1355G>A
NR_003102.2:n.3823G>A
NR_003103.2:n.3614G>A
NR_003104.2:n.3800G>A