Canonical Allele Identifier: CA376556325

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119617C>G , CM000672.2:g.43119617C>G	GRCh38
NC_000010.10:g.43615065C>G , CM000672.1:g.43615065C>G	GRCh37
NC_000010.9:g.42935071C>G	NCBI36
NG_007489.1:g.47549C>G , LRG_518:g.47549C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.2479C>G MANE Select	NP_066124.1:p.Leu827Val
ENST00000355710.8:c.2479C>G MANE Select	ENSP00000347942.3:p.Leu827Val
NM_001355216.1:c.1717C>G	NP_001342145.1:p.Leu573Val
NM_020630.4:c.2479C>G , LRG_518t2:c.2479C>G	NP_065681.1:p.Leu827Val
NM_020630.5:c.2479C>G	NP_065681.1:p.Leu827Val
NM_020630.6:c.2479C>G	NP_065681.1:p.Leu827Val
NM_020975.4:c.2479C>G , LRG_518t1:c.2479C>G	NP_066124.1:p.Leu827Val
NM_020975.5:c.2479C>G	NP_066124.1:p.Leu827Val
ENST00000340058.5:c.2479C>G	ENSP00000344798.4:p.Leu827Val
ENST00000340058.6:c.2479C>G	ENSP00000344798.4:p.Leu827Val
ENST00000355710.7:c.2479C>G	ENSP00000347942.3:p.Leu827Val
ENST00000615310.4:c.1290-85C>G	ENSP00000480088.1:n.1290-85C>G
ENST00000615310.5:c.2083C>G	ENSP00000480088.2:p.Leu695Val
ENST00000671844.1:c.*1073C>G	ENSP00000500541.1:n.*1073C>G
ENST00000672389.1:c.*1073C>G	ENSP00000500252.1:n.*1073C>G
ENST00000683007.1:n.2053C>G
ENST00000683872.1:n.2044C>G
XM_011540027.1:c.2479C>G	XP_011538329.1:p.Leu827Val