Canonical Allele Identifier: CA359069751

Gene: TERT

Linked Data

• ClinVar Variation Id: 1797965
• ClinVar RCV Id: RCV002440215
• MyVariant Identifiers: chr5:g.1260614C>G (hg19) ; chr5:g.1260499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260499C>G , CM000667.2:g.1260499C>G	GRCh38
NC_000005.9:g.1260614C>G , CM000667.1:g.1260614C>G	GRCh37
NC_000005.8:g.1313614C>G	NCBI36
NG_009265.1:g.39549G>C , LRG_343:g.39549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2945G>C MANE Select	ENSP00000309572.5:p.Cys982Ser
ENST00000656021.1:c.*2491G>C	ENSP00000499759.1:n.*2491G>C
ENST00000667927.1:n.233G>C
ENST00000310581.9:c.2945G>C	ENSP00000309572.5:p.Cys982Ser
ENST00000334602.10:c.2756G>C	ENSP00000334346.6:p.Cys919Ser
ENST00000460137.6:c.2538G>C	ENSP00000425003.1:n.2538G>C
ENST00000484238.6:n.1387G>C
NM_001193376.1:c.2756G>C	NP_001180305.1:p.Cys919Ser
NM_198253.2:c.2945G>C , LRG_343t1:c.2945G>C	NP_937983.2:p.Cys982Ser
XM_011514104.1:c.1415G>C	XP_011512406.1:p.Cys472Ser
XM_011514105.1:c.1301G>C	XP_011512407.1:p.Cys434Ser
XM_011514106.1:c.1301G>C	XP_011512408.1:p.Cys434Ser
NR_149162.1:n.2632G>C
NR_149163.1:n.2596G>C
NM_001193376.2:c.2756G>C	NP_001180305.1:p.Cys919Ser
NM_198253.3:c.2945G>C MANE Select	NP_937983.2:p.Cys982Ser
NR_149162.2:n.2653G>C
NR_149163.2:n.2617G>C
NM_001193376.3:c.2756G>C	NP_001180305.1:p.Cys919Ser
NR_149162.3:n.2653G>C
NR_149163.3:n.2617G>C