Canonical Allele Identifier: CA4465237

Gene: POT1

Linked Data

• ClinVar Variation Id: 2856108
• ClinVar RCV Id: RCV003746097
• dbSNP Id: rs748578303
• ExAC: 7:124482955 G / A
• gnomAD v2: 7-124482955-G-A
• gnomAD v4: 7-124842901-G-A
• COSMIC: COSM4161755 ; COSM4161756
• MyVariant Identifiers: chr7:g.124482955G>A (hg19) ; chr7:g.124842901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842901G>A , CM000669.2:g.124842901G>A	GRCh38
NC_000007.13:g.124482955G>A , CM000669.1:g.124482955G>A	GRCh37
NC_000007.12:g.124270191G>A	NCBI36
NG_029232.1:g.92083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1069C>T MANE Select	ENSP00000350249.3:p.Pro357Ser
ENST00000430927.6:c.1069C>T	ENSP00000397632.2:p.Pro357Ser
ENST00000653241.1:c.1069C>T	ENSP00000499476.1:p.Pro357Ser
ENST00000653274.1:c.1069C>T	ENSP00000499382.1:p.Pro357Ser
ENST00000653819.1:c.*800C>T	ENSP00000499533.1:n.*800C>T
ENST00000653892.1:c.*711C>T	ENSP00000499506.1:n.*711C>T
ENST00000654766.1:c.1069C>T	ENSP00000499395.1:p.Pro357Ser
ENST00000655761.1:c.1069C>T	ENSP00000499635.1:p.Pro357Ser
ENST00000657333.1:c.*800C>T	ENSP00000499425.1:n.*800C>T
ENST00000657892.1:c.*938C>T	ENSP00000499524.1:n.*938C>T
ENST00000661898.1:c.1069C>T	ENSP00000499528.1:p.Pro357Ser
ENST00000662531.1:c.*964C>T	ENSP00000499488.1:n.*964C>T
ENST00000664330.1:c.*920C>T	ENSP00000499781.1:n.*920C>T
ENST00000664366.1:c.1069C>T	ENSP00000499290.1:p.Pro357Ser
ENST00000668382.1:c.1069C>T	ENSP00000499546.1:p.Pro357Ser
ENST00000357628.7:c.1069C>T	ENSP00000350249.3:p.Pro357Ser
ENST00000393329.5:c.676C>T	ENSP00000377002.1:p.Pro226Ser
ENST00000466483.1:n.349C>T
ENST00000607932.5:c.1069C>T	ENSP00000476506.1:p.Pro357Ser
ENST00000608057.5:c.*166C>T	ENSP00000476371.1:n.*166C>T
ENST00000609106.5:c.1069C>T	ENSP00000476981.1:p.Pro357Ser
NM_001042594.1:c.676C>T	NP_001036059.1:p.Pro226Ser
NM_015450.2:c.1069C>T	NP_056265.2:p.Pro357Ser
NR_003102.1:n.1790C>T
NR_003103.1:n.1670C>T
NR_003104.1:n.1670C>T
XM_006715917.2:c.1069C>T	XP_006715980.1:p.Pro357Ser
XM_011516006.1:c.676C>T	XP_011514308.1:p.Pro226Ser
XM_011516007.1:c.676C>T	XP_011514309.1:p.Pro226Ser
XM_006715917.4:c.1069C>T	XP_006715980.1:p.Pro357Ser
XM_017011942.2:c.676C>T	XP_016867431.1:p.Pro226Ser
XR_001744618.1:n.1660C>T
XR_001744619.2:n.1529C>T
NM_015450.3:c.1069C>T MANE Select	NP_056265.2:p.Pro357Ser
NM_001042594.2:c.676C>T	NP_001036059.1:p.Pro226Ser
NR_003102.2:n.1632C>T
NR_003103.2:n.1512C>T
NR_003104.2:n.1512C>T