Canonical Allele Identifier: CA042670
Community Standard Title: NM_020975.6(RET):c.3123G>A (p.Val1041=)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43126658G>A , CM000672.2:g.43126658G>A GRCh38
NC_000010.10:g.43622106G>A , CM000672.1:g.43622106G>A GRCh37
NC_000010.9:g.42942112G>A NCBI36
NG_007489.1:g.54590G>A , LRG_518:g.54590G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.3123G>A MANE Select NP_066124.1:p.Val1041=
ENST00000355710.8:c.3123G>A MANE Select ENSP00000347942.3:p.Val1041=
NM_001355216.1:c.2361G>A NP_001342145.1:p.Val787=
NM_020630.4:c.3123G>A , LRG_518t2:c.3123G>A NP_065681.1:p.Val1041=
NM_020630.5:c.3123G>A NP_065681.1:p.Val1041=
NM_020630.6:c.3123G>A NP_065681.1:p.Val1041=
NM_020975.4:c.3123G>A , LRG_518t1:c.3123G>A NP_066124.1:p.Val1041=
NM_020975.5:c.3123G>A NP_066124.1:p.Val1041=
ENST00000340058.5:c.3123G>A ENSP00000344798.4:p.Val1041=
ENST00000340058.6:c.3123G>A ENSP00000344798.4:p.Val1041=
ENST00000355710.7:c.3123G>A ENSP00000347942.3:p.Val1041=
ENST00000615310.4:c.*472G>A ENSP00000480088.1:n.*472G>A
ENST00000615310.5:c.2727G>A ENSP00000480088.2:p.Val909=
ENST00000671844.1:c.*1717G>A ENSP00000500541.1:n.*1717G>A
ENST00000672389.1:c.*1717G>A ENSP00000500252.1:n.*1717G>A
ENST00000683007.1:n.2697G>A
XM_011540027.1:c.3123G>A XP_011538329.1:p.Val1041=