Canonical Allele Identifier: CA469032697
Community Standard Title: NM_020975.6(RET):c.3171T>C (p.Ile1057=)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43126706T>C , CM000672.2:g.43126706T>C GRCh38
NC_000010.10:g.43622154T>C , CM000672.1:g.43622154T>C GRCh37
NC_000010.9:g.42942160T>C NCBI36
NG_007489.1:g.54638T>C , LRG_518:g.54638T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.3171T>C MANE Select NP_066124.1:p.Ile1057=
ENST00000355710.8:c.3171T>C MANE Select ENSP00000347942.3:p.Ile1057=
NM_001355216.1:c.2409T>C NP_001342145.1:p.Ile803=
NM_020630.4:c.3171T>C , LRG_518t2:c.3171T>C NP_065681.1:p.Ile1057=
NM_020630.5:c.3171T>C NP_065681.1:p.Ile1057=
NM_020630.6:c.3171T>C NP_065681.1:p.Ile1057=
NM_020975.4:c.3171T>C , LRG_518t1:c.3171T>C NP_066124.1:p.Ile1057=
NM_020975.5:c.3171T>C NP_066124.1:p.Ile1057=
ENST00000340058.5:c.3171T>C ENSP00000344798.4:p.Ile1057=
ENST00000340058.6:c.3171T>C ENSP00000344798.4:p.Ile1057=
ENST00000355710.7:c.3171T>C ENSP00000347942.3:p.Ile1057=
ENST00000615310.4:c.*520T>C ENSP00000480088.1:n.*520T>C
ENST00000615310.5:c.2775T>C ENSP00000480088.2:p.Ile925=
ENST00000671844.1:c.*1765T>C ENSP00000500541.1:n.*1765T>C
ENST00000672389.1:c.*1765T>C ENSP00000500252.1:n.*1765T>C
ENST00000683007.1:n.2745T>C
XM_011540027.1:c.3171T>C XP_011538329.1:p.Ile1057=