Canonical Allele Identifier: CA4053575
Community Standard Title: NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152176497G>A , CM000668.2:g.152176497G>A GRCh38
NC_000006.11:g.152497632G>A , CM000668.1:g.152497632G>A GRCh37
NC_000006.10:g.152539325G>A NCBI36
NG_012855.1:g.465903C>T
NG_012855.2:g.465903C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.23524C>T MANE Select NP_892006.3:p.Arg7842Ter
ENST00000367255.10:c.23524C>T MANE Select ENSP00000356224.5:p.Arg7842Ter
NM_001347701.1:c.130C>T NP_001334630.1:p.Arg44Ter
NM_001347701.2:c.130C>T NP_001334630.1:p.Arg44Ter
NM_033071.3:c.23311C>T NP_149062.1:p.Arg7771Ter
NM_033071.5:c.23311C>T NP_149062.2:p.Arg7771Ter
NM_182961.3:c.23524C>T NP_892006.3:p.Arg7842Ter
ENST00000341594.9:c.22309C>T ENSP00000341887.6:p.Arg7437Ter
ENST00000347037.9:n.203C>T
ENST00000367251.7:c.2290C>T ENSP00000356220.3:p.Arg764Ter
ENST00000367255.9:c.23524C>T ENSP00000356224.5:p.Arg7842Ter
ENST00000367256.9:n.7216C>T
ENST00000367257.8:c.1462C>T ENSP00000356226.4:p.Arg488Ter
ENST00000409694.6:n.7108C>T
ENST00000423061.5:c.23311C>T ENSP00000396024.1:p.Arg7771Ter
ENST00000423061.6:c.23311C>T ENSP00000396024.1:p.Arg7771Ter
ENST00000536990.5:n.361C>T
XM_006715407.1:c.23560C>T XP_006715470.1:p.Arg7854Ter
XM_006715408.1:c.23548C>T XP_006715471.1:p.Arg7850Ter
XM_006715408.2:c.23548C>T XP_006715471.1:p.Arg7850Ter
XM_006715409.1:c.23539C>T XP_006715472.1:p.Arg7847Ter
XM_006715410.1:c.23560C>T XP_006715473.1:p.Arg7854Ter
XM_006715410.2:c.23560C>T XP_006715473.1:p.Arg7854Ter
XM_006715411.1:c.23509C>T XP_006715474.1:p.Arg7837Ter
XM_006715412.1:c.23545C>T XP_006715475.1:p.Arg7849Ter
XM_006715412.2:c.23545C>T XP_006715475.1:p.Arg7849Ter
XM_006715413.1:c.23560C>T XP_006715476.1:p.Arg7854Ter
XM_006715413.2:c.23560C>T XP_006715476.1:p.Arg7854Ter
XM_006715414.1:c.23488C>T XP_006715477.1:p.Arg7830Ter
XM_006715415.1:c.23560C>T XP_006715478.1:p.Arg7854Ter
XM_006715415.2:c.23560C>T XP_006715478.1:p.Arg7854Ter
XM_006715416.1:c.23545C>T XP_006715479.1:p.Arg7849Ter
XM_006715416.2:c.23545C>T XP_006715479.1:p.Arg7849Ter
XM_006715417.1:c.23419C>T XP_006715480.1:p.Arg7807Ter
XM_006715417.2:c.23419C>T XP_006715480.1:p.Arg7807Ter
XM_006715420.1:c.23407C>T XP_006715483.1:p.Arg7803Ter
XM_006715420.2:c.23407C>T XP_006715483.1:p.Arg7803Ter
XM_006715421.1:c.23404C>T XP_006715484.1:p.Arg7802Ter
XM_006715421.2:c.23404C>T XP_006715484.1:p.Arg7802Ter
XM_006715422.1:c.23401C>T XP_006715485.1:p.Arg7801Ter
XM_006715423.1:c.23560C>T XP_006715486.1:p.Arg7854Ter
XM_006715423.2:c.23560C>T XP_006715486.1:p.Arg7854Ter
XM_006715424.1:c.23560C>T XP_006715487.1:p.Arg7854Ter
XM_006715424.2:c.23560C>T XP_006715487.1:p.Arg7854Ter
XM_006715425.1:c.23560C>T XP_006715488.1:p.Arg7854Ter
XM_006715425.2:c.23560C>T XP_006715488.1:p.Arg7854Ter
XM_011535641.1:c.23557C>T XP_011533943.1:p.Arg7853Ter
XM_011535641.2:c.23557C>T XP_011533943.1:p.Arg7853Ter
XM_011535642.1:c.23545C>T XP_011533944.1:p.Arg7849Ter
XM_011535642.2:c.23545C>T XP_011533944.1:p.Arg7849Ter
XM_011535643.1:c.23395C>T XP_011533945.1:p.Arg7799Ter
XM_011535644.1:c.21835C>T XP_011533946.1:p.Arg7279Ter
XM_011535645.1:c.21328C>T XP_011533947.1:p.Arg7110Ter
XM_011535645.2:c.21328C>T XP_011533947.1:p.Arg7110Ter
XM_011535647.1:c.16795C>T XP_011533949.1:p.Arg5599Ter
XM_017010608.1:c.23560C>T XP_016866097.1:p.Arg7854Ter
XM_017010609.1:c.23560C>T XP_016866098.1:p.Arg7854Ter
XM_017010610.1:c.23539C>T XP_016866099.1:p.Arg7847Ter
XM_017010611.2:c.23533C>T XP_016866100.1:p.Arg7845Ter
XM_017010612.1:c.23482C>T XP_016866101.1:p.Arg7828Ter
XM_017010613.1:c.23557C>T XP_016866102.1:p.Arg7853Ter
XM_017010614.1:c.23404C>T XP_016866103.1:p.Arg7802Ter
XM_017010615.1:c.23404C>T XP_016866104.1:p.Arg7802Ter
XM_017010616.1:c.23560C>T XP_016866105.1:p.Arg7854Ter
XM_017010617.1:c.23557C>T XP_016866106.1:p.Arg7853Ter
XM_017010618.1:c.23545C>T XP_016866107.1:p.Arg7849Ter
XM_017010619.1:c.21835C>T XP_016866108.1:p.Arg7279Ter