Canonical Allele Identifier: CA10582367

Gene: TERT

Linked Data

• ClinVar Variation Id: 242210
• ClinVar RCV Id: RCV000034312 ; RCV001820777 ; RCV002356314 ; RCV002519807 ; RCV003332157 ; RCV003475834
• dbSNP Id: rs878855297
• gnomAD v2: 5-1295161-T-G
• gnomAD v3: 5-1295046-T-G
• gnomAD v4: 5-1295046-T-G
• COSMIC: COSN1307007 ; COSN1307008 ; COSN4612168 ; COSN5068891 ; COSN5068892 ; COSN24984694
• MyVariant Identifiers: chr5:g.1295161T>G (hg19) ; chr5:g.1295046T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1295046T>G , CM000667.2:g.1295046T>G	GRCh38
NC_000005.9:g.1295161T>G , CM000667.1:g.1295161T>G	GRCh37
NC_000005.8:g.1348161T>G	NCBI36
NG_009265.1:g.5002A>C , LRG_343:g.5002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.-57A>C MANE Select	ENSP00000309572.5:n.-57A>C
ENST00000656021.1:c.-57A>C	ENSP00000499759.1:n.-57A>C
ENST00000310581.9:c.-57A>C	ENSP00000309572.5:n.-57A>C
ENST00000522877.1:n.24A>C
NM_001193376.1:c.-57A>C	NP_001180305.1:n.-57A>C
NM_198253.2:c.-57A>C , LRG_343t1:c.-57A>C	NP_937983.2:n.-57A>C
NR_149162.1:n.2A>C
NR_149163.1:n.2A>C
NM_001193376.2:c.-57A>C	NP_001180305.1:n.-57A>C
NM_198253.3:c.-57A>C MANE Select	NP_937983.2:n.-57A>C
NR_149162.2:n.23A>C
NR_149163.2:n.23A>C
NM_001193376.3:c.-57A>C	NP_001180305.1:n.-57A>C
NR_149162.3:n.23A>C
NR_149163.3:n.23A>C