Canonical Allele Identifier: CA443020472
Community Standard Title: NM_198253.3(TERT):c.3048G>A (p.Val1016=)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1255396C>T , CM000667.2:g.1255396C>T GRCh38
NC_000005.9:g.1255511C>T , CM000667.1:g.1255511C>T GRCh37
NC_000005.8:g.1308511C>T NCBI36
NG_009265.1:g.44652G>A , LRG_343:g.44652G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3048G>A MANE Select NP_937983.2:p.Val1016=
ENST00000310581.10:c.3048G>A MANE Select ENSP00000309572.5:p.Val1016=
NM_001193376.1:c.2859G>A NP_001180305.1:p.Val953=
NM_001193376.2:c.2859G>A NP_001180305.1:p.Val953=
NM_001193376.3:c.2859G>A NP_001180305.1:p.Val953=
NM_198253.2:c.3048G>A , LRG_343t1:c.3048G>A NP_937983.2:p.Val1016=
NR_149162.1:n.2735G>A
NR_149162.2:n.2756G>A
NR_149162.3:n.2756G>A
NR_149163.1:n.2699G>A
NR_149163.2:n.2720G>A
NR_149163.3:n.2720G>A
ENST00000310581.9:c.3048G>A ENSP00000309572.5:p.Val1016=
ENST00000334602.10:c.2859G>A ENSP00000334346.6:p.Val953=
ENST00000460137.6:c.2641G>A ENSP00000425003.1:n.2641G>A
ENST00000484238.6:n.1490G>A
ENST00000656021.1:c.*2594G>A ENSP00000499759.1:n.*2594G>A
ENST00000667927.1:n.336G>A
XM_011514104.1:c.1518G>A XP_011512406.1:p.Val506=
XM_011514105.1:c.1404G>A XP_011512407.1:p.Val468=
XM_011514106.1:c.1404G>A XP_011512408.1:p.Val468=