Canonical Allele Identifier: CA359073218

Gene: TERT

Linked Data

• MyVariant Identifiers: chr5:g.1266616C>A (hg19) ; chr5:g.1266501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266501C>A , CM000667.2:g.1266501C>A	GRCh38
NC_000005.9:g.1266616C>A , CM000667.1:g.1266616C>A	GRCh37
NC_000005.8:g.1319616C>A	NCBI36
NG_009265.1:g.33547G>T , LRG_343:g.33547G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2617G>T MANE Select	ENSP00000309572.5:p.Val873Leu
ENST00000656021.1:c.*2163G>T	ENSP00000499759.1:n.*2163G>T
ENST00000310581.9:c.2617G>T	ENSP00000309572.5:p.Val873Leu
ENST00000334602.10:c.2617G>T	ENSP00000334346.6:p.Val873Leu
ENST00000460137.6:c.2399G>T	ENSP00000425003.1:n.2399G>T
ENST00000484238.6:n.1248G>T
ENST00000503656.1:n.24G>T
ENST00000508104.2:c.2435G>T	ENSP00000426042.2:n.2435G>T
NM_001193376.1:c.2617G>T	NP_001180305.1:p.Val873Leu
NM_198253.2:c.2617G>T , LRG_343t1:c.2617G>T	NP_937983.2:p.Val873Leu
XM_011514104.1:c.1087G>T	XP_011512406.1:p.Val363Leu
XM_011514105.1:c.973G>T	XP_011512407.1:p.Val325Leu
XM_011514106.1:c.973G>T	XP_011512408.1:p.Val325Leu
NR_149162.1:n.2493G>T
NR_149163.1:n.2457G>T
NM_001193376.2:c.2617G>T	NP_001180305.1:p.Val873Leu
NM_198253.3:c.2617G>T MANE Select	NP_937983.2:p.Val873Leu
NR_149162.2:n.2514G>T
NR_149163.2:n.2478G>T
NM_001193376.3:c.2617G>T	NP_001180305.1:p.Val873Leu
NR_149162.3:n.2514G>T
NR_149163.3:n.2478G>T