Canonical Allele Identifier: CA10028511
Community Standard Title: NM_004627.6(GET1):c.421C>T (p.Arg141Cys)
Gene: GET1 HGNC NCBI
GET1-SH3BGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39393250C>T , CM000683.2:g.39393250C>T GRCh38
NC_000021.8:g.40765176C>T , CM000683.1:g.40765176C>T GRCh37
NC_000021.7:g.39687046C>T NCBI36
NG_045002.3:g.17964C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004627.6:c.421C>T (GET1) MANE Select NP_004618.2:p.Arg141Cys
ENST00000649170.1:c.421C>T (GET1) MANE Select ENSP00000496813.1:p.Arg141Cys
NM_001146218.1:c.319C>T (GET1) NP_001139690.1:p.Arg107Cys
NM_001146218.2:c.319C>T (GET1) NP_001139690.1:p.Arg107Cys
NM_001146218.3:c.319C>T (GET1) NP_001139690.1:p.Arg107Cys
NM_001317744.1:c.336+1414C>T (GET1-SH3BGR) NP_001304673.1:n.336+1414C>T
NM_001317744.2:c.336+1414C>T (GET1-SH3BGR) NP_001304673.1:n.336+1414C>T
NM_001350293.1:c.349C>T (GET1) NP_001337222.1:p.Arg117Cys
NM_001350294.1:c.319C>T (GET1) NP_001337223.1:p.Arg107Cys
NM_001350294.2:c.319C>T (GET1) NP_001337223.1:p.Arg107Cys
NM_001350295.1:c.319C>T (GET1) NP_001337224.1:p.Arg107Cys
NM_001350295.2:c.319C>T (GET1) NP_001337224.1:p.Arg107Cys
NM_001350296.1:c.319C>T (GET1) NP_001337225.1:p.Arg107Cys
NM_001350296.2:c.319C>T (GET1) NP_001337225.1:p.Arg107Cys
NM_001350300.1:c.336+1414C>T (GET1-SH3BGR) NP_001337229.1:n.336+1414C>T
NM_001350300.2:c.336+1414C>T (GET1-SH3BGR) NP_001337229.1:n.336+1414C>T
NM_004627.4:c.421C>T (GET1) NP_004618.2:p.Arg141Cys
NM_004627.5:c.421C>T (GET1) NP_004618.2:p.Arg141Cys
NR_146614.1:n.1175C>T (GET1)
NR_146614.2:n.1093C>T (GET1)
NR_146615.1:n.561C>T (GET1)
NR_146615.2:n.480C>T (GET1)
NR_146616.1:n.1025C>T (GET1)
NR_146616.2:n.1007C>T (GET1)
NR_146618.1:n.562C>T (GET1-SH3BGR)
NR_146618.2:n.480C>T (GET1-SH3BGR)
ENST00000333781.9:c.421C>T (GET1) ENSP00000327716.5:p.Arg141Cys
ENST00000380708.5:c.319C>T (GET1) ENSP00000370084.1:p.Arg107Cys
ENST00000380713.7:c.319C>T (GET1) ENSP00000370089.3:p.Arg107Cys
ENST00000398753.5:c.319C>T (GET1) ENSP00000381737.1:p.Arg107Cys
ENST00000415847.2:c.144C>T (GET1)
ENST00000415847.3:c.319C>T (GET1) ENSP00000410228.3:p.Arg107Cys
ENST00000466787.1:c.*722C>T (GET1) ENSP00000485215.1:n.*722C>T
ENST00000490860.1:n.355C>T (GET1)
ENST00000623703.3:c.421C>T (GET1) ENSP00000485555.1:p.Arg141Cys
ENST00000647678.1:c.76C>T (GET1) ENSP00000497322.1:p.Arg26Cys
ENST00000647779.1:c.336+1414C>T (GET1-SH3BGR) ENSP00000497977.1:n.336+1414C>T
ENST00000647911.1:c.*722C>T (GET1) ENSP00000497171.1:n.*722C>T
ENST00000648253.1:c.421C>T (GET1-SH3BGR) ENSP00000497295.1:p.Arg141Cys
ENST00000649100.1:c.*165C>T (GET1) ENSP00000497111.1:n.*165C>T
ENST00000649224.1:c.*161C>T (GET1) ENSP00000497189.1:n.*161C>T
ENST00000649499.1:c.188C>T (GET1)
ENST00000649822.1:c.384C>T (GET1) ENSP00000498209.1:n.384C>T
ENST00000650208.1:n.72+1414C>T (GET1)
ENST00000650376.1:c.319C>T (GET1) ENSP00000497103.1:p.Arg107Cys
XM_005261059.2:c.319C>T (GET1) XP_005261116.1:p.Arg107Cys
XM_005261060.2:c.319C>T (GET1) XP_005261117.1:p.Arg107Cys
XM_005261061.2:c.319C>T (GET1) XP_005261118.1:p.Arg107Cys
XM_011529744.1:c.487C>T (GET1) XP_011528046.1:p.Arg163Cys
XM_011529745.1:c.319C>T (GET1) XP_011528047.1:p.Arg107Cys