Canonical Allele Identifier: CA1740720454
Gene: POT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124842964C= , CM000669.2:g.124842964C= GRCh38
NC_000007.13:g.124483018C= , CM000669.1:g.124483018C= GRCh37
NC_000007.12:g.124270254C= NCBI36
NG_029232.1:g.92020G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357628.8:c.1007-1G= MANE Select ENSP00000350249.3:n.1007-1G=
ENST00000430927.6:c.1007-1G= ENSP00000397632.2:n.1007-1G=
ENST00000446993.6:c.614-1G= ENSP00000388921.2:n.614-1G=
ENST00000653241.1:c.1007-1G= ENSP00000499476.1:n.1007-1G=
ENST00000653274.1:c.1007-1G= ENSP00000499382.1:n.1007-1G=
ENST00000653819.1:c.*738-1G= ENSP00000499533.1:n.*738-1G=
ENST00000653892.1:c.*649-1G= ENSP00000499506.1:n.*649-1G=
ENST00000654766.1:c.1007-1G= ENSP00000499395.1:n.1007-1G=
ENST00000655761.1:c.1007-1G= ENSP00000499635.1:n.1007-1G=
ENST00000657333.1:c.*738-1G= ENSP00000499425.1:n.*738-1G=
ENST00000657892.1:c.*876-1G= ENSP00000499524.1:n.*876-1G=
ENST00000661898.1:c.1007-1G= ENSP00000499528.1:n.1007-1G=
ENST00000662531.1:c.*902-1G= ENSP00000499488.1:n.*902-1G=
ENST00000664330.1:c.*858-1G= ENSP00000499781.1:n.*858-1G=
ENST00000664366.1:c.1007-1G= ENSP00000499290.1:n.1007-1G=
ENST00000668382.1:c.1007-1G= ENSP00000499546.1:n.1007-1G=
ENST00000357628.7:c.1007-1G= ENSP00000350249.3:n.1007-1G=
ENST00000393329.5:c.614-1G= ENSP00000377002.1:n.614-1G=
ENST00000466483.1:n.286G=
ENST00000607932.5:c.1007-1G= ENSP00000476506.1:n.1007-1G=
ENST00000608057.5:c.*104-1G= ENSP00000476371.1:n.*104-1G=
ENST00000609106.5:c.1007-1G= ENSP00000476981.1:n.1007-1G=
NM_001042594.1:c.614-1G= NP_001036059.1:n.614-1G=
NM_015450.2:c.1007-1G= NP_056265.2:n.1007-1G=
NR_003102.1:n.1728-1G=
NR_003103.1:n.1608-1G=
NR_003104.1:n.1608-1G=
XM_006715917.2:c.1007-1G= XP_006715980.1:n.1007-1G=
XM_011516006.1:c.614-1G= XP_011514308.1:n.614-1G=
XM_011516007.1:c.614-1G= XP_011514309.1:n.614-1G=
XM_006715917.4:c.1007-1G= XP_006715980.1:n.1007-1G=
XM_017011942.2:c.614-1G= XP_016867431.1:n.614-1G=
XR_001744618.1:n.1598-1G=
XR_001744619.2:n.1467-1G=
NM_015450.3:c.1007-1G= MANE Select NP_056265.2:n.1007-1G=
NM_001042594.2:c.614-1G= NP_001036059.1:n.614-1G=
NR_003102.2:n.1570-1G=
NR_003103.2:n.1450-1G=
NR_003104.2:n.1450-1G=