Canonical Allele Identifier: CA1673188808

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122478G= , CM000668.2:g.152122478G= GRCh38
NC_000006.11:g.152443613G= , CM000668.1:g.152443613G= GRCh37
NC_000006.10:g.152485306G= NCBI36
NG_012855.1:g.519922C=
NG_008493.2:g.470788G=
NG_012855.2:g.519922C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2886C= (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Phe962=
ENST00000367255.10:c.26352C= (SYNE1) MANE Select ENSP00000356224.5:p.Phe8784=
ENST00000423061.6:c.26208C= (SYNE1) ENSP00000396024.1:p.Phe8736=
ENST00000672154.1:c.1695C= (SYNE1)
ENST00000672169.1:c.2070C= (SYNE1)
ENST00000673173.1:c.1937C= (SYNE1)
ENST00000673451.1:c.2202C= (SYNE1) ENSP00000500189.1:n.2202C=
ENST00000341594.9:c.25137C= (SYNE1) ENSP00000341887.6:p.Phe8379=
ENST00000347037.9:n.3100C= (SYNE1)
ENST00000354674.4:c.2886C= (SYNE1) ENSP00000346701.4:p.Phe962=
ENST00000367251.7:c.5128C= (SYNE1) ENSP00000356220.3:n.5128C=
ENST00000367255.9:c.26352C= (SYNE1) ENSP00000356224.5:p.Phe8784=
ENST00000367256.9:n.10044C= (SYNE1)
ENST00000367257.8:c.4231C= (SYNE1) ENSP00000356226.4:n.4231C=
ENST00000409694.6:n.9936C= (SYNE1)
ENST00000423061.5:c.26208C= (SYNE1) ENSP00000396024.1:p.Phe8736=
ENST00000427531.6:c.851-2788G= (ESR1) ENSP00000394721.2:n.851-2788G=
ENST00000460912.6:n.2966C= (SYNE1)
ENST00000478916.5:n.6989C= (SYNE1)
ENST00000539504.5:c.2817C= (SYNE1) ENSP00000441052.1:p.Phe939=
NM_033071.3:c.26208C= (SYNE1) NP_149062.1:p.Phe8736=
NM_182961.3:c.26352C= (SYNE1) NP_892006.3:p.Phe8784=
XM_006715407.1:c.26499C= (SYNE1) XP_006715470.1:p.Phe8833=
XM_006715408.1:c.26487C= (SYNE1) XP_006715471.1:p.Phe8829=
XM_006715409.1:c.26478C= (SYNE1) XP_006715472.1:p.Phe8826=
XM_006715410.1:c.26457C= (SYNE1) XP_006715473.1:p.Phe8819=
XM_006715411.1:c.26448C= (SYNE1) XP_006715474.1:p.Phe8816=
XM_006715412.1:c.26442C= (SYNE1) XP_006715475.1:p.Phe8814=
XM_006715413.1:c.26430C= (SYNE1) XP_006715476.1:p.Phe8810=
XM_006715414.1:c.26427C= (SYNE1) XP_006715477.1:p.Phe8809=
XM_006715415.1:c.26388C= (SYNE1) XP_006715478.1:p.Phe8796=
XM_006715416.1:c.26373C= (SYNE1) XP_006715479.1:p.Phe8791=
XM_006715417.1:c.26358C= (SYNE1) XP_006715480.1:p.Phe8786=
XM_006715420.1:c.26346C= (SYNE1) XP_006715483.1:p.Phe8782=
XM_006715421.1:c.26343C= (SYNE1) XP_006715484.1:p.Phe8781=
XM_006715422.1:c.26340C= (SYNE1) XP_006715485.1:p.Phe8780=
XM_006715423.1:c.*163C= (SYNE1) XP_006715486.1:n.*163C=
XM_006715424.1:c.*163C= (SYNE1) XP_006715487.1:n.*163C=
XM_006715425.1:c.*163C= (SYNE1) XP_006715488.1:n.*163C=
XM_011535641.1:c.26496C= (SYNE1) XP_011533943.1:p.Phe8832=
XM_011535642.1:c.26484C= (SYNE1) XP_011533944.1:p.Phe8828=
XM_011535643.1:c.26334C= (SYNE1) XP_011533945.1:p.Phe8778=
XM_011535644.1:c.24774C= (SYNE1) XP_011533946.1:p.Phe8258=
XM_011535645.1:c.24267C= (SYNE1) XP_011533947.1:p.Phe8089=
XM_011535647.1:c.19734C= (SYNE1) XP_011533949.1:p.Phe6578=
NM_001328100.1:c.851-2788G= (ESR1) NP_001315029.1:n.851-2788G=
NM_001347701.1:c.*163C= (SYNE1) NP_001334630.1:n.*163C=
NM_001347702.1:c.2886C= (SYNE1) NP_001334631.1:p.Phe962=
XM_006715408.2:c.26487C= (SYNE1) XP_006715471.1:p.Phe8829=
XM_006715410.2:c.26457C= (SYNE1) XP_006715473.1:p.Phe8819=
XM_006715412.2:c.26442C= (SYNE1) XP_006715475.1:p.Phe8814=
XM_006715413.2:c.26430C= (SYNE1) XP_006715476.1:p.Phe8810=
XM_006715415.2:c.26388C= (SYNE1) XP_006715478.1:p.Phe8796=
XM_006715416.2:c.26373C= (SYNE1) XP_006715479.1:p.Phe8791=
XM_006715417.2:c.26358C= (SYNE1) XP_006715480.1:p.Phe8786=
XM_006715420.2:c.26346C= (SYNE1) XP_006715483.1:p.Phe8782=
XM_006715421.2:c.26343C= (SYNE1) XP_006715484.1:p.Phe8781=
XM_006715423.2:c.*163C= (SYNE1) XP_006715486.1:n.*163C=
XM_006715424.2:c.*163C= (SYNE1) XP_006715487.1:n.*163C=
XM_006715425.2:c.*163C= (SYNE1) XP_006715488.1:n.*163C=
XM_011535641.2:c.26496C= (SYNE1) XP_011533943.1:p.Phe8832=
XM_011535642.2:c.26484C= (SYNE1) XP_011533944.1:p.Phe8828=
XM_011535645.2:c.24267C= (SYNE1) XP_011533947.1:p.Phe8089=
XM_017010608.1:c.26499C= (SYNE1) XP_016866097.1:p.Phe8833=
XM_017010609.1:c.26499C= (SYNE1) XP_016866098.1:p.Phe8833=
XM_017010610.1:c.26478C= (SYNE1) XP_016866099.1:p.Phe8826=
XM_017010611.2:c.26472C= (SYNE1) XP_016866100.1:p.Phe8824=
XM_017010612.1:c.26421C= (SYNE1) XP_016866101.1:p.Phe8807=
XM_017010613.1:c.26385C= (SYNE1) XP_016866102.1:p.Phe8795=
XM_017010614.1:c.26343C= (SYNE1) XP_016866103.1:p.Phe8781=
XM_017010615.1:c.26232C= (SYNE1) XP_016866104.1:p.Phe8744=
XM_017010616.1:c.*163C= (SYNE1) XP_016866105.1:n.*163C=
XM_017010617.1:c.*163C= (SYNE1) XP_016866106.1:n.*163C=
XM_017010618.1:c.*163C= (SYNE1) XP_016866107.1:n.*163C=
XM_017010619.1:c.24774C= (SYNE1) XP_016866108.1:p.Phe8258=
NM_182961.4:c.26352C= (SYNE1) MANE Select NP_892006.3:p.Phe8784=
NM_001328100.2:c.851-2788G= (ESR1) NP_001315029.1:n.851-2788G=
NM_001347701.2:c.*163C= (SYNE1) NP_001334630.1:n.*163C=
NM_001347702.2:c.2886C= (SYNE1) MANE Plus Clinical NP_001334631.1:p.Phe962=
NM_033071.5:c.26208C= (SYNE1) NP_149062.2:p.Phe8736=