Canonical Allele Identifier: CA1905810886
Community Standard Title: NM_020975.6(RET):c.1179C= (p.Phe393=)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43109146C= , CM000672.2:g.43109146C= GRCh38
NC_000010.10:g.43604594C= , CM000672.1:g.43604594C= GRCh37
NC_000010.9:g.42924600C= NCBI36
NG_007489.1:g.37078C= , LRG_518:g.37078C=

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1179C= MANE Select NP_066124.1:p.Phe393=
ENST00000355710.8:c.1179C= MANE Select ENSP00000347942.3:p.Phe393=
NM_001355216.1:c.417C= NP_001342145.1:p.Phe139=
NM_020630.4:c.1179C= , LRG_518t2:c.1179C= NP_065681.1:p.Phe393=
NM_020630.5:c.1179C= NP_065681.1:p.Phe393=
NM_020630.6:c.1179C= NP_065681.1:p.Phe393=
NM_020975.4:c.1179C= , LRG_518t1:c.1179C= NP_066124.1:p.Phe393=
NM_020975.5:c.1179C= NP_066124.1:p.Phe393=
ENST00000340058.5:c.1179C= ENSP00000344798.4:p.Phe393=
ENST00000340058.6:c.1179C= ENSP00000344798.4:p.Phe393=
ENST00000355710.7:c.1179C= ENSP00000347942.3:p.Phe393=
ENST00000498820.5:c.74-2953C= ENSP00000419080.1:n.74-2953C=
ENST00000615310.4:c.1179C= ENSP00000480088.1:p.Phe393=
ENST00000615310.5:c.868-2061C= ENSP00000480088.2:n.868-2061C=
ENST00000671844.1:c.626-2061C= ENSP00000500541.1:n.626-2061C=
ENST00000672389.1:c.74-2061C= ENSP00000500252.1:n.74-2061C=
ENST00000683007.1:n.753C=
XM_011540027.1:c.1179C= XP_011538329.1:p.Phe393=