Canonical Allele Identifier: CA397631945

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2323211G>A , CM000679.2:g.2323211G>A GRCh38
NC_000017.10:g.2226505G>A , CM000679.1:g.2226505G>A GRCh37
NC_000017.9:g.2173255G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018128.5:c.*985C>T (TSR1) MANE Select NP_060598.3:n.*985C>T
NM_021947.3:c.670G>A (SRR) MANE Select NP_068766.1:p.Gly224Arg
ENST00000301364.10:c.*985C>T (TSR1) MANE Select ENSP00000301364.4:n.*985C>T
ENST00000344595.10:c.670G>A (SRR) MANE Select ENSP00000339435.5:p.Gly224Arg
NM_001304803.1:c.223G>A (SRR) NP_001291732.1:p.Gly75Arg
NM_018128.4:c.*985C>T (TSR1) NP_060598.3:n.*985C>T
NM_021947.2:c.670G>A (SRR) NP_068766.1:p.Gly224Arg
ENST00000301364.9:c.*985C>T (TSR1) ENSP00000301364.4:n.*985C>T
ENST00000344595.9:c.670G>A (SRR) ENSP00000339435.5:p.Gly224Arg
ENST00000574987.1:c.223G>A (SRR) ENSP00000461343.1:p.Gly75Arg
ENST00000576620.5:c.412G>A (SRR) ENSP00000461125.1:p.Gly138Arg
ENST00000576848.1:c.-9G>A (SRR) ENSP00000476682.1:n.-9G>A
XM_006721565.2:c.670G>A (SRR) XP_006721628.1:p.Gly224Arg
XM_006721565.3:c.670G>A (SRR) XP_006721628.1:p.Gly224Arg
XM_006721566.2:c.670G>A (SRR) XP_006721629.1:p.Gly224Arg
XM_006721566.3:c.670G>A (SRR) XP_006721629.1:p.Gly224Arg
XM_011523974.1:c.670G>A (SRR) XP_011522276.1:p.Gly224Arg
XM_011523974.3:c.670G>A (SRR) XP_011522276.1:p.Gly224Arg
XM_011523975.1:c.670G>A (SRR) XP_011522277.1:p.Gly224Arg