Canonical Allele Identifier: CA359069934

Gene: TERT

Linked Data

• dbSNP Id: rs1454007851
• gnomAD v2: 5-1260640-T-G
• gnomAD v4: 5-1260525-T-G
• MyVariant Identifiers: chr5:g.1260640T>G (hg19) ; chr5:g.1260525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260525T>G , CM000667.2:g.1260525T>G	GRCh38
NC_000005.9:g.1260640T>G , CM000667.1:g.1260640T>G	GRCh37
NC_000005.8:g.1313640T>G	NCBI36
NG_009265.1:g.39523A>C , LRG_343:g.39523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2919A>C MANE Select	ENSP00000309572.5:p.Lys973Asn
ENST00000656021.1:c.*2465A>C	ENSP00000499759.1:n.*2465A>C
ENST00000667927.1:n.207A>C
ENST00000310581.9:c.2919A>C	ENSP00000309572.5:p.Lys973Asn
ENST00000334602.10:c.2730A>C	ENSP00000334346.6:p.Lys910Asn
ENST00000460137.6:c.2512A>C	ENSP00000425003.1:n.2512A>C
ENST00000484238.6:n.1361A>C
NM_001193376.1:c.2730A>C	NP_001180305.1:p.Lys910Asn
NM_198253.2:c.2919A>C , LRG_343t1:c.2919A>C	NP_937983.2:p.Lys973Asn
XM_011514104.1:c.1389A>C	XP_011512406.1:p.Lys463Asn
XM_011514105.1:c.1275A>C	XP_011512407.1:p.Lys425Asn
XM_011514106.1:c.1275A>C	XP_011512408.1:p.Lys425Asn
NR_149162.1:n.2606A>C
NR_149163.1:n.2570A>C
NM_001193376.2:c.2730A>C	NP_001180305.1:p.Lys910Asn
NM_198253.3:c.2919A>C MANE Select	NP_937983.2:p.Lys973Asn
NR_149162.2:n.2627A>C
NR_149163.2:n.2591A>C
NM_001193376.3:c.2730A>C	NP_001180305.1:p.Lys910Asn
NR_149162.3:n.2627A>C
NR_149163.3:n.2591A>C