Canonical Allele Identifier: CA658832921

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.[43100585G>A;43106382G>A;43124887C>T] , CM000672.2:g.[43100585G>A;43106382G>A;43124887C>T]	GRCh38
NC_000010.10:g.[43596033G>A;43601830G>A;43620335C>T] , CM000672.1:g.[43596033G>A;43601830G>A;43620335C>T]	GRCh37
NC_000010.9:g.[42916039G>A;42921836G>A;42940341C>T]	NCBI36
NG_007489.1:g.[28517G>A;34314G>A;52819C>T] , LRG_518:g.[28517G>A;34314G>A;52819C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.[200G>A;867+1189G>A;2548C>T]	ENSP00000480088.2:p.[Arg67His;Arg850Cys]
ENST00000340058.6:c.[200G>A;874G>A;2944C>T]	ENSP00000344798.4:p.[Arg67His;Val292Met;Arg982Cys]
ENST00000355710.8:c.[200G>A;874G>A;2944C>T] MANE Select	ENSP00000347942.3:p.[Arg67His;Val292Met;Arg982Cys]
ENST00000671844.1:c.[200G>A;625+3753G>A;*1538C>T]	ENSP00000500541.1:[p.Arg67His;n.625+3753G>A]
ENST00000672389.1:c.[74-10622G>A;74-4825G>A;*1538C>T]	ENSP00000500252.1:n.[74-10622G>A;74-4825G>A;*1538C>T]
ENST00000340058.5:c.[200G>A;874G>A;2944C>T]	ENSP00000344798.4:p.[Arg67His;Val292Met;Arg982Cys]
ENST00000355710.7:c.[200G>A;874G>A;2944C>T]	ENSP00000347942.3:p.[Arg67His;Val292Met;Arg982Cys]
ENST00000615310.4:c.[200G>A;874G>A;*293C>T]	ENSP00000480088.1:[p.Arg67His;p.Val292Met;n.*293C>T]
NM_020630.4:c.[200G>A;874G>A;2944C>T] , LRG_518t2:c.[200G>A;874G>A;2944C>T]	NP_065681.1:p.[Arg67His;Val292Met;Arg982Cys]
NM_020975.4:c.[200G>A;874G>A;2944C>T] , LRG_518t1:c.[200G>A;874G>A;2944C>T]	NP_066124.1:p.[Arg67His;Val292Met;Arg982Cys]
XM_011540027.1:c.[200G>A;874G>A;2944C>T]	XP_011538329.1:p.[Arg67His;Val292Met;Arg982Cys]
NM_020630.5:c.[200G>A;874G>A;2944C>T]	NP_065681.1:p.[Arg67His;Val292Met;Arg982Cys]
NM_020975.5:c.[200G>A;874G>A;2944C>T]	NP_066124.1:p.[Arg67His;Val292Met;Arg982Cys]
NM_020975.6:c.[200G>A;874G>A;2944C>T] MANE Select	NP_066124.1:p.[Arg67His;Val292Met;Arg982Cys]
NM_020630.6:c.[200G>A;874G>A;2944C>T]	NP_065681.1:p.[Arg67His;Val292Met;Arg982Cys]