Canonical Allele Identifier: CA359073343

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1266645A>G (hg19) ; chr5:g.1266530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266530A>G , CM000667.2:g.1266530A>G	GRCh38
NC_000005.9:g.1266645A>G , CM000667.1:g.1266645A>G	GRCh37
NC_000005.8:g.1319645A>G	NCBI36
NG_009265.1:g.33518T>C , LRG_343:g.33518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2588T>C MANE Select	ENSP00000309572.5:p.Leu863Pro
ENST00000656021.1:c.*2134T>C	ENSP00000499759.1:n.*2134T>C
ENST00000310581.9:c.2588T>C	ENSP00000309572.5:p.Leu863Pro
ENST00000334602.10:c.2588T>C	ENSP00000334346.6:p.Leu863Pro
ENST00000460137.6:c.2370T>C	ENSP00000425003.1:p.Ala790=
ENST00000484238.6:n.1219T>C
ENST00000508104.2:c.2406T>C	ENSP00000426042.2:p.Ala802=
NM_001193376.1:c.2588T>C	NP_001180305.1:p.Leu863Pro
NM_198253.2:c.2588T>C , LRG_343t1:c.2588T>C	NP_937983.2:p.Leu863Pro
XM_011514104.1:c.1058T>C	XP_011512406.1:p.Leu353Pro
XM_011514105.1:c.944T>C	XP_011512407.1:p.Leu315Pro
XM_011514106.1:c.944T>C	XP_011512408.1:p.Leu315Pro
NR_149162.1:n.2464T>C
NR_149163.1:n.2428T>C
NM_001193376.2:c.2588T>C	NP_001180305.1:p.Leu863Pro
NM_198253.3:c.2588T>C MANE Select	NP_937983.2:p.Leu863Pro
NR_149162.2:n.2485T>C
NR_149163.2:n.2449T>C
NM_001193376.3:c.2588T>C	NP_001180305.1:p.Leu863Pro
NR_149162.3:n.2485T>C
NR_149163.3:n.2449T>C