Canonical Allele Identifier: CA376558208
Community Standard Title: NM_020975.6(RET):c.3021G>C (p.Lys1007Asn)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43124964G>C , CM000672.2:g.43124964G>C GRCh38
NC_000010.10:g.43620412G>C , CM000672.1:g.43620412G>C GRCh37
NC_000010.9:g.42940418G>C NCBI36
NG_007489.1:g.52896G>C , LRG_518:g.52896G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.3021G>C MANE Select NP_066124.1:p.Lys1007Asn
ENST00000355710.8:c.3021G>C MANE Select ENSP00000347942.3:p.Lys1007Asn
NM_001355216.1:c.2259G>C NP_001342145.1:p.Lys753Asn
NM_020630.4:c.3021G>C , LRG_518t2:c.3021G>C NP_065681.1:p.Lys1007Asn
NM_020630.5:c.3021G>C NP_065681.1:p.Lys1007Asn
NM_020630.6:c.3021G>C NP_065681.1:p.Lys1007Asn
NM_020975.4:c.3021G>C , LRG_518t1:c.3021G>C NP_066124.1:p.Lys1007Asn
NM_020975.5:c.3021G>C NP_066124.1:p.Lys1007Asn
ENST00000340058.5:c.3021G>C ENSP00000344798.4:p.Lys1007Asn
ENST00000340058.6:c.3021G>C ENSP00000344798.4:p.Lys1007Asn
ENST00000355710.7:c.3021G>C ENSP00000347942.3:p.Lys1007Asn
ENST00000615310.4:c.*370G>C ENSP00000480088.1:n.*370G>C
ENST00000615310.5:c.2625G>C ENSP00000480088.2:p.Lys875Asn
ENST00000671844.1:c.*1615G>C ENSP00000500541.1:n.*1615G>C
ENST00000672389.1:c.*1615G>C ENSP00000500252.1:n.*1615G>C
ENST00000683007.1:n.2595G>C
XM_011540027.1:c.3021G>C XP_011538329.1:p.Lys1007Asn