Canonical Allele Identifier: CA112930141

Gene: TERT

Linked Data

• dbSNP Id: rs972583179
• gnomAD v4: 5-1260406-A-G
• MyVariant Identifiers: chr5:g.1260521A>G (hg19) ; chr5:g.1260406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260406A>G , CM000667.2:g.1260406A>G	GRCh38
NC_000005.9:g.1260521A>G , CM000667.1:g.1260521A>G	GRCh37
NC_000005.8:g.1313521A>G	NCBI36
NG_009265.1:g.39642T>C , LRG_343:g.39642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+68T>C MANE Select	ENSP00000309572.5:n.2970+68T>C
ENST00000656021.1:c.*2516+68T>C	ENSP00000499759.1:n.*2516+68T>C
ENST00000667927.1:n.258+68T>C
ENST00000310581.9:c.2970+68T>C	ENSP00000309572.5:n.2970+68T>C
ENST00000334602.10:c.2781+68T>C	ENSP00000334346.6:n.2781+68T>C
ENST00000460137.6:c.2563+68T>C	ENSP00000425003.1:n.2563+68T>C
ENST00000484238.6:n.1412+68T>C
NM_001193376.1:c.2781+68T>C	NP_001180305.1:n.2781+68T>C
NM_198253.2:c.2970+68T>C , LRG_343t1:c.2970+68T>C	NP_937983.2:n.2970+68T>C
XM_011514104.1:c.1440+68T>C	XP_011512406.1:n.1440+68T>C
XM_011514105.1:c.1326+68T>C	XP_011512407.1:n.1326+68T>C
XM_011514106.1:c.1326+68T>C	XP_011512408.1:n.1326+68T>C
NR_149162.1:n.2657+68T>C
NR_149163.1:n.2621+68T>C
NM_001193376.2:c.2781+68T>C	NP_001180305.1:n.2781+68T>C
NM_198253.3:c.2970+68T>C MANE Select	NP_937983.2:n.2970+68T>C
NR_149162.2:n.2678+68T>C
NR_149163.2:n.2642+68T>C
NM_001193376.3:c.2781+68T>C	NP_001180305.1:n.2781+68T>C
NR_149162.3:n.2678+68T>C
NR_149163.3:n.2642+68T>C