Canonical Allele Identifier: CA376550689
Community Standard Title: NM_020975.6(RET):c.1610C>T (p.Pro537Leu)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43112186C>T , CM000672.2:g.43112186C>T GRCh38
NC_000010.10:g.43607634C>T , CM000672.1:g.43607634C>T GRCh37
NC_000010.9:g.42927640C>T NCBI36
NG_007489.1:g.40118C>T , LRG_518:g.40118C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1610C>T MANE Select NP_066124.1:p.Pro537Leu
ENST00000355710.8:c.1610C>T MANE Select ENSP00000347942.3:p.Pro537Leu
NM_001355216.1:c.848C>T NP_001342145.1:p.Pro283Leu
NM_020630.4:c.1610C>T , LRG_518t2:c.1610C>T NP_065681.1:p.Pro537Leu
NM_020630.5:c.1610C>T NP_065681.1:p.Pro537Leu
NM_020630.6:c.1610C>T NP_065681.1:p.Pro537Leu
NM_020975.4:c.1610C>T , LRG_518t1:c.1610C>T NP_066124.1:p.Pro537Leu
NM_020975.5:c.1610C>T NP_066124.1:p.Pro537Leu
ENST00000340058.5:c.1610C>T ENSP00000344798.4:p.Pro537Leu
ENST00000340058.6:c.1610C>T ENSP00000344798.4:p.Pro537Leu
ENST00000355710.7:c.1610C>T ENSP00000347942.3:p.Pro537Leu
ENST00000498820.5:c.161C>T ENSP00000419080.1:p.Pro54Leu
ENST00000615310.4:c.1289+954C>T ENSP00000480088.1:n.1289+954C>T
ENST00000615310.5:c.1214C>T ENSP00000480088.2:p.Pro405Leu
ENST00000671844.1:c.*204C>T ENSP00000500541.1:n.*204C>T
ENST00000672389.1:c.*204C>T ENSP00000500252.1:n.*204C>T
ENST00000683007.1:n.1184C>T
ENST00000683872.1:n.371C>T
XM_011540027.1:c.1610C>T XP_011538329.1:p.Pro537Leu