Canonical Allele Identifier: CA8279686
Community Standard Title: NM_018128.5(TSR1):c.2117T>C (p.Ile706Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2324733A>G , CM000679.2:g.2324733A>G GRCh38
NC_000017.10:g.2228027A>G , CM000679.1:g.2228027A>G GRCh37
NC_000017.9:g.2174777A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018128.5:c.2117T>C (TSR1) MANE Select NP_060598.3:p.Ile706Thr
NM_021947.3:c.*860A>G (SRR) MANE Select NP_068766.1:n.*860A>G
ENST00000301364.10:c.2117T>C (TSR1) MANE Select ENSP00000301364.4:p.Ile706Thr
ENST00000344595.10:c.*860A>G (SRR) MANE Select ENSP00000339435.5:n.*860A>G
NM_001304803.1:c.*860A>G (SRR) NP_001291732.1:n.*860A>G
NM_018128.4:c.2117T>C (TSR1) NP_060598.3:p.Ile706Thr
NM_021947.2:c.*860A>G (SRR) NP_068766.1:n.*860A>G
ENST00000301364.9:c.2117T>C (TSR1) ENSP00000301364.4:p.Ile706Thr
ENST00000344595.9:c.*860A>G (SRR) ENSP00000339435.5:n.*860A>G
ENST00000575049.1:c.345T>C (TSR1)
XM_006721565.2:c.*860A>G (SRR) XP_006721628.1:n.*860A>G
XM_006721565.3:c.*860A>G (SRR) XP_006721628.1:n.*860A>G
XM_006721566.2:c.*860A>G (SRR) XP_006721629.1:n.*860A>G
XM_006721566.3:c.*860A>G (SRR) XP_006721629.1:n.*860A>G
XM_011523974.1:c.*860A>G (SRR) XP_011522276.1:n.*860A>G
XM_011523974.3:c.*860A>G (SRR) XP_011522276.1:n.*860A>G