Canonical Allele Identifier: CA359069902

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260521A>G , CM000667.2:g.1260521A>G	GRCh38
NC_000005.9:g.1260636A>G , CM000667.1:g.1260636A>G	GRCh37
NC_000005.8:g.1313636A>G	NCBI36
NG_009265.1:g.39527T>C , LRG_343:g.39527T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.2923T>C MANE Select	NP_937983.2:p.Phe975Leu
ENST00000310581.10:c.2923T>C MANE Select	ENSP00000309572.5:p.Phe975Leu
NM_001193376.1:c.2734T>C	NP_001180305.1:p.Phe912Leu
NM_001193376.2:c.2734T>C	NP_001180305.1:p.Phe912Leu
NM_001193376.3:c.2734T>C	NP_001180305.1:p.Phe912Leu
NM_198253.2:c.2923T>C , LRG_343t1:c.2923T>C	NP_937983.2:p.Phe975Leu
NR_149162.1:n.2610T>C
NR_149162.2:n.2631T>C
NR_149162.3:n.2631T>C
NR_149163.1:n.2574T>C
NR_149163.2:n.2595T>C
NR_149163.3:n.2595T>C
ENST00000310581.9:c.2923T>C	ENSP00000309572.5:p.Phe975Leu
ENST00000334602.10:c.2734T>C	ENSP00000334346.6:p.Phe912Leu
ENST00000460137.6:c.2516T>C	ENSP00000425003.1:n.2516T>C
ENST00000484238.6:n.1365T>C
ENST00000656021.1:c.*2469T>C	ENSP00000499759.1:n.*2469T>C
ENST00000667927.1:n.211T>C
XM_011514104.1:c.1393T>C	XP_011512406.1:p.Phe465Leu
XM_011514105.1:c.1279T>C	XP_011512407.1:p.Phe427Leu
XM_011514106.1:c.1279T>C	XP_011512408.1:p.Phe427Leu