Canonical Allele Identifier: CA369068404

Gene: POT1

Linked Data

• ClinVar Variation Id: 475018
• ClinVar RCV Id: RCV000555287 ; RCV001009865
• dbSNP Id: rs1554420630
• MyVariant Identifiers: chr7:g.124482946A>G (hg19) ; chr7:g.124842892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842892A>G , CM000669.2:g.124842892A>G	GRCh38
NC_000007.13:g.124482946A>G , CM000669.1:g.124482946A>G	GRCh37
NC_000007.12:g.124270182A>G	NCBI36
NG_029232.1:g.92092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1078T>C MANE Select	ENSP00000350249.3:p.Tyr360His
ENST00000430927.6:c.1078T>C	ENSP00000397632.2:p.Tyr360His
ENST00000653241.1:c.1078T>C	ENSP00000499476.1:p.Tyr360His
ENST00000653274.1:c.1078T>C	ENSP00000499382.1:p.Tyr360His
ENST00000653819.1:c.*809T>C	ENSP00000499533.1:n.*809T>C
ENST00000653892.1:c.*720T>C	ENSP00000499506.1:n.*720T>C
ENST00000654766.1:c.1078T>C	ENSP00000499395.1:p.Tyr360His
ENST00000655761.1:c.1078T>C	ENSP00000499635.1:p.Tyr360His
ENST00000657333.1:c.*809T>C	ENSP00000499425.1:n.*809T>C
ENST00000657892.1:c.*947T>C	ENSP00000499524.1:n.*947T>C
ENST00000661898.1:c.1078T>C	ENSP00000499528.1:p.Tyr360His
ENST00000662531.1:c.*973T>C	ENSP00000499488.1:n.*973T>C
ENST00000664330.1:c.*929T>C	ENSP00000499781.1:n.*929T>C
ENST00000664366.1:c.1078T>C	ENSP00000499290.1:p.Tyr360His
ENST00000668382.1:c.1078T>C	ENSP00000499546.1:p.Tyr360His
ENST00000357628.7:c.1078T>C	ENSP00000350249.3:p.Tyr360His
ENST00000393329.5:c.685T>C	ENSP00000377002.1:p.Tyr229His
ENST00000466483.1:n.358T>C
ENST00000607932.5:c.1078T>C	ENSP00000476506.1:p.Tyr360His
ENST00000608057.5:c.*175T>C	ENSP00000476371.1:n.*175T>C
ENST00000609106.5:c.1078T>C	ENSP00000476981.1:p.Tyr360His
NM_001042594.1:c.685T>C	NP_001036059.1:p.Tyr229His
NM_015450.2:c.1078T>C	NP_056265.2:p.Tyr360His
NR_003102.1:n.1799T>C
NR_003103.1:n.1679T>C
NR_003104.1:n.1679T>C
XM_006715917.2:c.1078T>C	XP_006715980.1:p.Tyr360His
XM_011516006.1:c.685T>C	XP_011514308.1:p.Tyr229His
XM_011516007.1:c.685T>C	XP_011514309.1:p.Tyr229His
XM_006715917.4:c.1078T>C	XP_006715980.1:p.Tyr360His
XM_017011942.2:c.685T>C	XP_016867431.1:p.Tyr229His
XR_001744618.1:n.1669T>C
XR_001744619.2:n.1538T>C
NM_015450.3:c.1078T>C MANE Select	NP_056265.2:p.Tyr360His
NM_001042594.2:c.685T>C	NP_001036059.1:p.Tyr229His
NR_003102.2:n.1641T>C
NR_003103.2:n.1521T>C
NR_003104.2:n.1521T>C