Canonical Allele Identifier: CA359069700

Gene: TERT

Linked Data

• ClinVar Variation Id: 1009899
• ClinVar RCV Id: RCV002545009
• dbSNP Id: rs1748149112
• MyVariant Identifiers: chr5:g.1260608C>T (hg19) ; chr5:g.1260493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260493C>T , CM000667.2:g.1260493C>T	GRCh38
NC_000005.9:g.1260608C>T , CM000667.1:g.1260608C>T	GRCh37
NC_000005.8:g.1313608C>T	NCBI36
NG_009265.1:g.39555G>A , LRG_343:g.39555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2951G>A MANE Select	ENSP00000309572.5:p.Ser984Asn
ENST00000656021.1:c.*2497G>A	ENSP00000499759.1:n.*2497G>A
ENST00000667927.1:n.239G>A
ENST00000310581.9:c.2951G>A	ENSP00000309572.5:p.Ser984Asn
ENST00000334602.10:c.2762G>A	ENSP00000334346.6:p.Ser921Asn
ENST00000460137.6:c.2544G>A	ENSP00000425003.1:n.2544G>A
ENST00000484238.6:n.1393G>A
NM_001193376.1:c.2762G>A	NP_001180305.1:p.Ser921Asn
NM_198253.2:c.2951G>A , LRG_343t1:c.2951G>A	NP_937983.2:p.Ser984Asn
XM_011514104.1:c.1421G>A	XP_011512406.1:p.Ser474Asn
XM_011514105.1:c.1307G>A	XP_011512407.1:p.Ser436Asn
XM_011514106.1:c.1307G>A	XP_011512408.1:p.Ser436Asn
NR_149162.1:n.2638G>A
NR_149163.1:n.2602G>A
NM_001193376.2:c.2762G>A	NP_001180305.1:p.Ser921Asn
NM_198253.3:c.2951G>A MANE Select	NP_937983.2:p.Ser984Asn
NR_149162.2:n.2659G>A
NR_149163.2:n.2623G>A
NM_001193376.3:c.2762G>A	NP_001180305.1:p.Ser921Asn
NR_149162.3:n.2659G>A
NR_149163.3:n.2623G>A