Canonical Allele Identifier: CA112957353

Gene: TERT

Linked Data

• dbSNP Id: rs181901052
• gnomAD v2: 5-1293266-G-C
• gnomAD v3: 5-1293151-G-C
• gnomAD v4: 5-1293151-G-C
• MyVariant Identifiers: chr5:g.1293266G>C (hg19) ; chr5:g.1293151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293151G>C , CM000667.2:g.1293151G>C	GRCh38
NC_000005.9:g.1293266G>C , CM000667.1:g.1293266G>C	GRCh37
NC_000005.8:g.1346266G>C	NCBI36
NG_009265.1:g.6897C>G , LRG_343:g.6897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1573+162C>G MANE Select	ENSP00000309572.5:n.1573+162C>G
ENST00000656021.1:c.*10C>G	ENSP00000499759.1:n.*10C>G
ENST00000310581.9:c.1573+162C>G	ENSP00000309572.5:n.1573+162C>G
ENST00000334602.10:c.1573+162C>G	ENSP00000334346.6:n.1573+162C>G
ENST00000460137.6:c.1573+162C>G	ENSP00000425003.1:n.1573+162C>G
ENST00000508104.2:c.1573+162C>G	ENSP00000426042.2:n.1573+162C>G
NM_001193376.1:c.1573+162C>G	NP_001180305.1:n.1573+162C>G
NM_198253.2:c.1573+162C>G , LRG_343t1:c.1573+162C>G	NP_937983.2:n.1573+162C>G
NR_149162.1:n.1631+162C>G
NR_149163.1:n.1631+162C>G
NM_001193376.2:c.1573+162C>G	NP_001180305.1:n.1573+162C>G
NM_198253.3:c.1573+162C>G MANE Select	NP_937983.2:n.1573+162C>G
NR_149162.2:n.1652+162C>G
NR_149163.2:n.1652+162C>G
NM_001193376.3:c.1573+162C>G	NP_001180305.1:n.1573+162C>G
NR_149162.3:n.1652+162C>G
NR_149163.3:n.1652+162C>G