Canonical Allele Identifier: CA359068797

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1258604G>A , CM000667.2:g.1258604G>A	GRCh38
NC_000005.9:g.1258719G>A , CM000667.1:g.1258719G>A	GRCh37
NC_000005.8:g.1311719G>A	NCBI36
NG_009265.1:g.41444C>T , LRG_343:g.41444C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3026C>T MANE Select	NP_937983.2:p.Ala1009Val
ENST00000310581.10:c.3026C>T MANE Select	ENSP00000309572.5:p.Ala1009Val
NM_001193376.1:c.2837C>T	NP_001180305.1:p.Ala946Val
NM_001193376.2:c.2837C>T	NP_001180305.1:p.Ala946Val
NM_001193376.3:c.2837C>T	NP_001180305.1:p.Ala946Val
NM_198253.2:c.3026C>T , LRG_343t1:c.3026C>T	NP_937983.2:p.Ala1009Val
NR_149162.1:n.2713C>T
NR_149162.2:n.2734C>T
NR_149162.3:n.2734C>T
NR_149163.1:n.2677C>T
NR_149163.2:n.2698C>T
NR_149163.3:n.2698C>T
ENST00000310581.9:c.3026C>T	ENSP00000309572.5:p.Ala1009Val
ENST00000334602.10:c.2837C>T	ENSP00000334346.6:p.Ala946Val
ENST00000460137.6:c.2619C>T	ENSP00000425003.1:n.2619C>T
ENST00000484238.6:n.1468C>T
ENST00000656021.1:c.*2572C>T	ENSP00000499759.1:n.*2572C>T
ENST00000667927.1:n.314C>T
XM_011514104.1:c.1496C>T	XP_011512406.1:p.Ala499Val
XM_011514105.1:c.1382C>T	XP_011512407.1:p.Ala461Val
XM_011514106.1:c.1382C>T	XP_011512408.1:p.Ala461Val