Canonical Allele Identifier: CA376544861

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43105075G>T , CM000672.2:g.43105075G>T	GRCh38
NC_000010.10:g.43600523G>T , CM000672.1:g.43600523G>T	GRCh37
NC_000010.9:g.42920529G>T	NCBI36
NG_007489.1:g.33007G>T , LRG_518:g.33007G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.749G>T MANE Select	NP_066124.1:p.Arg250Leu
ENST00000355710.8:c.749G>T MANE Select	ENSP00000347942.3:p.Arg250Leu
NM_001355216.1:c.-14G>T	NP_001342145.1:n.-14G>T
NM_020630.4:c.749G>T , LRG_518t2:c.749G>T	NP_065681.1:p.Arg250Leu
NM_020630.5:c.749G>T	NP_065681.1:p.Arg250Leu
NM_020630.6:c.749G>T	NP_065681.1:p.Arg250Leu
NM_020975.4:c.749G>T , LRG_518t1:c.749G>T	NP_066124.1:p.Arg250Leu
NM_020975.5:c.749G>T	NP_066124.1:p.Arg250Leu
ENST00000340058.5:c.749G>T	ENSP00000344798.4:p.Arg250Leu
ENST00000340058.6:c.749G>T	ENSP00000344798.4:p.Arg250Leu
ENST00000355710.7:c.749G>T	ENSP00000347942.3:p.Arg250Leu
ENST00000479913.1:n.344G>T
ENST00000498820.5:c.74-7024G>T	ENSP00000419080.1:n.74-7024G>T
ENST00000615310.4:c.749G>T	ENSP00000480088.1:p.Arg250Leu
ENST00000615310.5:c.749G>T	ENSP00000480088.2:p.Arg250Leu
ENST00000671844.1:c.625+2446G>T	ENSP00000500541.1:n.625+2446G>T
ENST00000672389.1:c.74-6132G>T	ENSP00000500252.1:n.74-6132G>T
ENST00000683007.1:n.323G>T
XM_011540027.1:c.749G>T	XP_011538329.1:p.Arg250Leu