Canonical Allele Identifier: CA4465245

Gene: POT1

Linked Data

• ClinVar Variation Id: 475012
• ClinVar RCV Id: RCV000549220 ; RCV000572211 ; RCV001662598 ; RCV001821620
• dbSNP Id: rs554325914
• ExAC: 7:124483002 T / C
• gnomAD v2: 7-124483002-T-C
• gnomAD v3: 7-124842948-T-C
• gnomAD v4: 7-124842948-T-C
• MyVariant Identifiers: chr7:g.124483002T>C (hg19) ; chr7:g.124842948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842948T>C , CM000669.2:g.124842948T>C	GRCh38
NC_000007.13:g.124483002T>C , CM000669.1:g.124483002T>C	GRCh37
NC_000007.12:g.124270238T>C	NCBI36
NG_029232.1:g.92036A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1022A>G MANE Select	ENSP00000350249.3:p.Gln341Arg
ENST00000430927.6:c.1022A>G	ENSP00000397632.2:p.Gln341Arg
ENST00000446993.6:c.629A>G	ENSP00000388921.2:p.Gln210Arg
ENST00000653241.1:c.1022A>G	ENSP00000499476.1:p.Gln341Arg
ENST00000653274.1:c.1022A>G	ENSP00000499382.1:p.Gln341Arg
ENST00000653819.1:c.*753A>G	ENSP00000499533.1:n.*753A>G
ENST00000653892.1:c.*664A>G	ENSP00000499506.1:n.*664A>G
ENST00000654766.1:c.1022A>G	ENSP00000499395.1:p.Gln341Arg
ENST00000655761.1:c.1022A>G	ENSP00000499635.1:p.Gln341Arg
ENST00000657333.1:c.*753A>G	ENSP00000499425.1:n.*753A>G
ENST00000657892.1:c.*891A>G	ENSP00000499524.1:n.*891A>G
ENST00000661898.1:c.1022A>G	ENSP00000499528.1:p.Gln341Arg
ENST00000662531.1:c.*917A>G	ENSP00000499488.1:n.*917A>G
ENST00000664330.1:c.*873A>G	ENSP00000499781.1:n.*873A>G
ENST00000664366.1:c.1022A>G	ENSP00000499290.1:p.Gln341Arg
ENST00000668382.1:c.1022A>G	ENSP00000499546.1:p.Gln341Arg
ENST00000357628.7:c.1022A>G	ENSP00000350249.3:p.Gln341Arg
ENST00000393329.5:c.629A>G	ENSP00000377002.1:p.Gln210Arg
ENST00000466483.1:n.302A>G
ENST00000607932.5:c.1022A>G	ENSP00000476506.1:p.Gln341Arg
ENST00000608057.5:c.*119A>G	ENSP00000476371.1:n.*119A>G
ENST00000609106.5:c.1022A>G	ENSP00000476981.1:p.Gln341Arg
NM_001042594.1:c.629A>G	NP_001036059.1:p.Gln210Arg
NM_015450.2:c.1022A>G	NP_056265.2:p.Gln341Arg
NR_003102.1:n.1743A>G
NR_003103.1:n.1623A>G
NR_003104.1:n.1623A>G
XM_006715917.2:c.1022A>G	XP_006715980.1:p.Gln341Arg
XM_011516006.1:c.629A>G	XP_011514308.1:p.Gln210Arg
XM_011516007.1:c.629A>G	XP_011514309.1:p.Gln210Arg
XM_006715917.4:c.1022A>G	XP_006715980.1:p.Gln341Arg
XM_017011942.2:c.629A>G	XP_016867431.1:p.Gln210Arg
XR_001744618.1:n.1613A>G
XR_001744619.2:n.1482A>G
NM_015450.3:c.1022A>G MANE Select	NP_056265.2:p.Gln341Arg
NM_001042594.2:c.629A>G	NP_001036059.1:p.Gln210Arg
NR_003102.2:n.1585A>G
NR_003103.2:n.1465A>G
NR_003104.2:n.1465A>G