Canonical Allele Identifier: CA359068884

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1258629T>C , CM000667.2:g.1258629T>C	GRCh38
NC_000005.9:g.1258744T>C , CM000667.1:g.1258744T>C	GRCh37
NC_000005.8:g.1311744T>C	NCBI36
NG_009265.1:g.41419A>G , LRG_343:g.41419A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.3001A>G MANE Select	NP_937983.2:p.Ile1001Val
ENST00000310581.10:c.3001A>G MANE Select	ENSP00000309572.5:p.Ile1001Val
NM_001193376.1:c.2812A>G	NP_001180305.1:p.Ile938Val
NM_001193376.2:c.2812A>G	NP_001180305.1:p.Ile938Val
NM_001193376.3:c.2812A>G	NP_001180305.1:p.Ile938Val
NM_198253.2:c.3001A>G , LRG_343t1:c.3001A>G	NP_937983.2:p.Ile1001Val
NR_149162.1:n.2688A>G
NR_149162.2:n.2709A>G
NR_149162.3:n.2709A>G
NR_149163.1:n.2652A>G
NR_149163.2:n.2673A>G
NR_149163.3:n.2673A>G
ENST00000310581.9:c.3001A>G	ENSP00000309572.5:p.Ile1001Val
ENST00000334602.10:c.2812A>G	ENSP00000334346.6:p.Ile938Val
ENST00000460137.6:c.2594A>G	ENSP00000425003.1:n.2594A>G
ENST00000484238.6:n.1443A>G
ENST00000656021.1:c.*2547A>G	ENSP00000499759.1:n.*2547A>G
ENST00000667927.1:n.289A>G
XM_011514104.1:c.1471A>G	XP_011512406.1:p.Ile491Val
XM_011514105.1:c.1357A>G	XP_011512407.1:p.Ile453Val
XM_011514106.1:c.1357A>G	XP_011512408.1:p.Ile453Val