Canonical Allele Identifier: CA376549951

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43111438C>T , CM000672.2:g.43111438C>T	GRCh38
NC_000010.10:g.43606886C>T , CM000672.1:g.43606886C>T	GRCh37
NC_000010.9:g.42926892C>T	NCBI36
NG_007489.1:g.39370C>T , LRG_518:g.39370C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1495C>T MANE Select	NP_066124.1:p.Gln499Ter
ENST00000355710.8:c.1495C>T MANE Select	ENSP00000347942.3:p.Gln499Ter
NM_001355216.1:c.733C>T	NP_001342145.1:p.Gln245Ter
NM_020630.4:c.1495C>T , LRG_518t2:c.1495C>T	NP_065681.1:p.Gln499Ter
NM_020630.5:c.1495C>T	NP_065681.1:p.Gln499Ter
NM_020630.6:c.1495C>T	NP_065681.1:p.Gln499Ter
NM_020975.4:c.1495C>T , LRG_518t1:c.1495C>T	NP_066124.1:p.Gln499Ter
NM_020975.5:c.1495C>T	NP_066124.1:p.Gln499Ter
ENST00000340058.5:c.1495C>T	ENSP00000344798.4:p.Gln499Ter
ENST00000340058.6:c.1495C>T	ENSP00000344798.4:p.Gln499Ter
ENST00000355710.7:c.1495C>T	ENSP00000347942.3:p.Gln499Ter
ENST00000498820.5:c.74-661C>T	ENSP00000419080.1:n.74-661C>T
ENST00000615310.4:c.1289+206C>T	ENSP00000480088.1:n.1289+206C>T
ENST00000615310.5:c.1099C>T	ENSP00000480088.2:p.Gln367Ter
ENST00000671844.1:c.*89C>T	ENSP00000500541.1:n.*89C>T
ENST00000672389.1:c.*89C>T	ENSP00000500252.1:n.*89C>T
ENST00000683007.1:n.1069C>T
ENST00000683872.1:n.256C>T
XM_011540027.1:c.1495C>T	XP_011538329.1:p.Gln499Ter