Canonical Allele Identifier: CA359067985
Community Standard Title: NM_198253.3(TERT):c.3157+1G>T
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1255286C>A , CM000667.2:g.1255286C>A GRCh38
NC_000005.9:g.1255401C>A , CM000667.1:g.1255401C>A GRCh37
NC_000005.8:g.1308401C>A NCBI36
NG_009265.1:g.44762G>T , LRG_343:g.44762G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3157+1G>T MANE Select NP_937983.2:n.3157+1G>T
ENST00000310581.10:c.3157+1G>T MANE Select ENSP00000309572.5:n.3157+1G>T
NM_001193376.1:c.2968+1G>T NP_001180305.1:n.2968+1G>T
NM_001193376.2:c.2968+1G>T NP_001180305.1:n.2968+1G>T
NM_001193376.3:c.2968+1G>T NP_001180305.1:n.2968+1G>T
NM_198253.2:c.3157+1G>T , LRG_343t1:c.3157+1G>T NP_937983.2:n.3157+1G>T
NR_149162.1:n.2844+1G>T
NR_149162.2:n.2865+1G>T
NR_149162.3:n.2865+1G>T
NR_149163.1:n.2808+1G>T
NR_149163.2:n.2829+1G>T
NR_149163.3:n.2829+1G>T
ENST00000310581.9:c.3157+1G>T ENSP00000309572.5:n.3157+1G>T
ENST00000334602.10:c.2968+1G>T ENSP00000334346.6:n.2968+1G>T
ENST00000460137.6:c.2750+1G>T ENSP00000425003.1:n.2750+1G>T
ENST00000484238.6:n.1599+1G>T
ENST00000656021.1:c.*2703+1G>T ENSP00000499759.1:n.*2703+1G>T
ENST00000667927.1:n.445+1G>T
XM_011514104.1:c.1627+1G>T XP_011512406.1:n.1627+1G>T
XM_011514105.1:c.1513+1G>T XP_011512407.1:n.1513+1G>T
XM_011514106.1:c.1513+1G>T XP_011512408.1:n.1513+1G>T
XR_925683.1:n.347-20C>A