Canonical Allele Identifier: CA376770728
Community Standard Title: NM_020975.6(RET):c.394C>A (p.Leu132Ile)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43102398C>A , CM000672.2:g.43102398C>A GRCh38
NC_000010.10:g.43597846C>A , CM000672.1:g.43597846C>A GRCh37
NC_000010.9:g.42917852C>A NCBI36
NG_007489.1:g.30330C>A , LRG_518:g.30330C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.394C>A MANE Select NP_066124.1:p.Leu132Ile
ENST00000355710.8:c.394C>A MANE Select ENSP00000347942.3:p.Leu132Ile
NM_020630.4:c.394C>A , LRG_518t2:c.394C>A NP_065681.1:p.Leu132Ile
NM_020630.5:c.394C>A NP_065681.1:p.Leu132Ile
NM_020630.6:c.394C>A NP_065681.1:p.Leu132Ile
NM_020975.4:c.394C>A , LRG_518t1:c.394C>A NP_066124.1:p.Leu132Ile
NM_020975.5:c.394C>A NP_066124.1:p.Leu132Ile
ENST00000340058.5:c.394C>A ENSP00000344798.4:p.Leu132Ile
ENST00000340058.6:c.394C>A ENSP00000344798.4:p.Leu132Ile
ENST00000355710.7:c.394C>A ENSP00000347942.3:p.Leu132Ile
ENST00000498820.5:c.74-9701C>A ENSP00000419080.1:n.74-9701C>A
ENST00000615310.4:c.394C>A ENSP00000480088.1:p.Leu132Ile
ENST00000615310.5:c.394C>A ENSP00000480088.2:p.Leu132Ile
ENST00000638465.1:c.336C>A
ENST00000640619.1:c.240-73C>A
ENST00000671844.1:c.394C>A ENSP00000500541.1:p.Leu132Ile
ENST00000672389.1:c.74-8809C>A ENSP00000500252.1:n.74-8809C>A
ENST00000683278.1:c.315C>A
ENST00000684216.1:c.296C>A
XM_011540027.1:c.394C>A XP_011538329.1:p.Leu132Ile