Canonical Allele Identifier: CA359073353

Gene: TERT

Linked Data

• ClinVar Variation Id: 1971792
• ClinVar RCV Id: RCV002750145
• gnomAD v4: 5-1266532-C-T
• MyVariant Identifiers: chr5:g.1266647C>T (hg19) ; chr5:g.1266532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266532C>T , CM000667.2:g.1266532C>T	GRCh38
NC_000005.9:g.1266647C>T , CM000667.1:g.1266647C>T	GRCh37
NC_000005.8:g.1319647C>T	NCBI36
NG_009265.1:g.33516G>A , LRG_343:g.33516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2586G>A MANE Select	ENSP00000309572.5:p.Leu862=
ENST00000656021.1:c.*2132G>A	ENSP00000499759.1:n.*2132G>A
ENST00000310581.9:c.2586G>A	ENSP00000309572.5:p.Leu862=
ENST00000334602.10:c.2586G>A	ENSP00000334346.6:p.Leu862=
ENST00000460137.6:c.2368G>A	ENSP00000425003.1:p.Ala790Thr
ENST00000484238.6:n.1217G>A
ENST00000508104.2:c.2404G>A	ENSP00000426042.2:p.Ala802Thr
NM_001193376.1:c.2586G>A	NP_001180305.1:p.Leu862=
NM_198253.2:c.2586G>A , LRG_343t1:c.2586G>A	NP_937983.2:p.Leu862=
XM_011514104.1:c.1056G>A	XP_011512406.1:p.Leu352=
XM_011514105.1:c.942G>A	XP_011512407.1:p.Leu314=
XM_011514106.1:c.942G>A	XP_011512408.1:p.Leu314=
NR_149162.1:n.2462G>A
NR_149163.1:n.2426G>A
NM_001193376.2:c.2586G>A	NP_001180305.1:p.Leu862=
NM_198253.3:c.2586G>A MANE Select	NP_937983.2:p.Leu862=
NR_149162.2:n.2483G>A
NR_149163.2:n.2447G>A
NM_001193376.3:c.2586G>A	NP_001180305.1:p.Leu862=
NR_149162.3:n.2483G>A
NR_149163.3:n.2447G>A