Canonical Allele Identifier: CA112929948

Gene: TERT

Linked Data

• dbSNP Id: rs976674028
• gnomAD v2: 5-1260389-G-A
• gnomAD v3: 5-1260274-G-A
• gnomAD v4: 5-1260274-G-A
• MyVariant Identifiers: chr5:g.1260389G>A (hg19) ; chr5:g.1260274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260274G>A , CM000667.2:g.1260274G>A	GRCh38
NC_000005.9:g.1260389G>A , CM000667.1:g.1260389G>A	GRCh37
NC_000005.8:g.1313389G>A	NCBI36
NG_009265.1:g.39774C>T , LRG_343:g.39774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+200C>T MANE Select	ENSP00000309572.5:n.2970+200C>T
ENST00000656021.1:c.*2516+200C>T	ENSP00000499759.1:n.*2516+200C>T
ENST00000667927.1:n.258+200C>T
ENST00000310581.9:c.2970+200C>T	ENSP00000309572.5:n.2970+200C>T
ENST00000334602.10:c.2781+200C>T	ENSP00000334346.6:n.2781+200C>T
ENST00000460137.6:c.2563+200C>T	ENSP00000425003.1:n.2563+200C>T
ENST00000484238.6:n.1412+200C>T
NM_001193376.1:c.2781+200C>T	NP_001180305.1:n.2781+200C>T
NM_198253.2:c.2970+200C>T , LRG_343t1:c.2970+200C>T	NP_937983.2:n.2970+200C>T
XM_011514104.1:c.1440+200C>T	XP_011512406.1:n.1440+200C>T
XM_011514105.1:c.1326+200C>T	XP_011512407.1:n.1326+200C>T
XM_011514106.1:c.1326+200C>T	XP_011512408.1:n.1326+200C>T
NR_149162.1:n.2657+200C>T
NR_149163.1:n.2621+200C>T
NM_001193376.2:c.2781+200C>T	NP_001180305.1:n.2781+200C>T
NM_198253.3:c.2970+200C>T MANE Select	NP_937983.2:n.2970+200C>T
NR_149162.2:n.2678+200C>T
NR_149163.2:n.2642+200C>T
NM_001193376.3:c.2781+200C>T	NP_001180305.1:n.2781+200C>T
NR_149162.3:n.2678+200C>T
NR_149163.3:n.2642+200C>T