Canonical Allele Identifier: CA452969377

Linked Data

MyVariant Identifiers: chr6:g.152443577T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122442T>A , CM000668.2:g.152122442T>A GRCh38
NC_000006.11:g.152443577T>A , CM000668.1:g.152443577T>A GRCh37
NC_000006.10:g.152485270T>A NCBI36
NG_012855.1:g.519958A>T
NG_008493.2:g.470752T>A
NG_012855.2:g.519958A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2922A>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro974=
ENST00000367255.10:c.26388A>T (SYNE1) MANE Select ENSP00000356224.5:p.Pro8796=
ENST00000423061.6:c.26244A>T (SYNE1) ENSP00000396024.1:p.Pro8748=
ENST00000672154.1:c.1731A>T (SYNE1)
ENST00000672169.1:c.2106A>T (SYNE1)
ENST00000673173.1:c.1973A>T (SYNE1)
ENST00000673451.1:c.2238A>T (SYNE1) ENSP00000500189.1:n.2238A>T
ENST00000341594.9:c.25173A>T (SYNE1) ENSP00000341887.6:p.Pro8391=
ENST00000347037.9:n.3136A>T (SYNE1)
ENST00000354674.4:c.2922A>T (SYNE1) ENSP00000346701.4:p.Pro974=
ENST00000367251.7:c.5164A>T (SYNE1) ENSP00000356220.3:n.5164A>T
ENST00000367255.9:c.26388A>T (SYNE1) ENSP00000356224.5:p.Pro8796=
ENST00000367256.9:n.10080A>T (SYNE1)
ENST00000367257.8:c.4267A>T (SYNE1) ENSP00000356226.4:n.4267A>T
ENST00000409694.6:n.9972A>T (SYNE1)
ENST00000423061.5:c.26244A>T (SYNE1) ENSP00000396024.1:p.Pro8748=
ENST00000427531.6:c.851-2824T>A (ESR1) ENSP00000394721.2:n.851-2824T>A
ENST00000460912.6:n.3002A>T (SYNE1)
ENST00000478916.5:n.7025A>T (SYNE1)
ENST00000539504.5:c.2853A>T (SYNE1) ENSP00000441052.1:p.Pro951=
NM_033071.3:c.26244A>T (SYNE1) NP_149062.1:p.Pro8748=
NM_182961.3:c.26388A>T (SYNE1) NP_892006.3:p.Pro8796=
XM_006715407.1:c.26535A>T (SYNE1) XP_006715470.1:p.Pro8845=
XM_006715408.1:c.26523A>T (SYNE1) XP_006715471.1:p.Pro8841=
XM_006715409.1:c.26514A>T (SYNE1) XP_006715472.1:p.Pro8838=
XM_006715410.1:c.26493A>T (SYNE1) XP_006715473.1:p.Pro8831=
XM_006715411.1:c.26484A>T (SYNE1) XP_006715474.1:p.Pro8828=
XM_006715412.1:c.26478A>T (SYNE1) XP_006715475.1:p.Pro8826=
XM_006715413.1:c.26466A>T (SYNE1) XP_006715476.1:p.Pro8822=
XM_006715414.1:c.26463A>T (SYNE1) XP_006715477.1:p.Pro8821=
XM_006715415.1:c.26424A>T (SYNE1) XP_006715478.1:p.Pro8808=
XM_006715416.1:c.26409A>T (SYNE1) XP_006715479.1:p.Pro8803=
XM_006715417.1:c.26394A>T (SYNE1) XP_006715480.1:p.Pro8798=
XM_006715420.1:c.26382A>T (SYNE1) XP_006715483.1:p.Pro8794=
XM_006715421.1:c.26379A>T (SYNE1) XP_006715484.1:p.Pro8793=
XM_006715422.1:c.26376A>T (SYNE1) XP_006715485.1:p.Pro8792=
XM_006715423.1:c.*199A>T (SYNE1) XP_006715486.1:n.*199A>T
XM_006715424.1:c.*199A>T (SYNE1) XP_006715487.1:n.*199A>T
XM_006715425.1:c.*199A>T (SYNE1) XP_006715488.1:n.*199A>T
XM_011535641.1:c.26532A>T (SYNE1) XP_011533943.1:p.Pro8844=
XM_011535642.1:c.26520A>T (SYNE1) XP_011533944.1:p.Pro8840=
XM_011535643.1:c.26370A>T (SYNE1) XP_011533945.1:p.Pro8790=
XM_011535644.1:c.24810A>T (SYNE1) XP_011533946.1:p.Pro8270=
XM_011535645.1:c.24303A>T (SYNE1) XP_011533947.1:p.Pro8101=
XM_011535647.1:c.19770A>T (SYNE1) XP_011533949.1:p.Pro6590=
NM_001328100.1:c.851-2824T>A (ESR1) NP_001315029.1:n.851-2824T>A
NM_001347701.1:c.*199A>T (SYNE1) NP_001334630.1:n.*199A>T
NM_001347702.1:c.2922A>T (SYNE1) NP_001334631.1:p.Pro974=
XM_006715408.2:c.26523A>T (SYNE1) XP_006715471.1:p.Pro8841=
XM_006715410.2:c.26493A>T (SYNE1) XP_006715473.1:p.Pro8831=
XM_006715412.2:c.26478A>T (SYNE1) XP_006715475.1:p.Pro8826=
XM_006715413.2:c.26466A>T (SYNE1) XP_006715476.1:p.Pro8822=
XM_006715415.2:c.26424A>T (SYNE1) XP_006715478.1:p.Pro8808=
XM_006715416.2:c.26409A>T (SYNE1) XP_006715479.1:p.Pro8803=
XM_006715417.2:c.26394A>T (SYNE1) XP_006715480.1:p.Pro8798=
XM_006715420.2:c.26382A>T (SYNE1) XP_006715483.1:p.Pro8794=
XM_006715421.2:c.26379A>T (SYNE1) XP_006715484.1:p.Pro8793=
XM_006715423.2:c.*199A>T (SYNE1) XP_006715486.1:n.*199A>T
XM_006715424.2:c.*199A>T (SYNE1) XP_006715487.1:n.*199A>T
XM_006715425.2:c.*199A>T (SYNE1) XP_006715488.1:n.*199A>T
XM_011535641.2:c.26532A>T (SYNE1) XP_011533943.1:p.Pro8844=
XM_011535642.2:c.26520A>T (SYNE1) XP_011533944.1:p.Pro8840=
XM_011535645.2:c.24303A>T (SYNE1) XP_011533947.1:p.Pro8101=
XM_017010608.1:c.26535A>T (SYNE1) XP_016866097.1:p.Pro8845=
XM_017010609.1:c.26535A>T (SYNE1) XP_016866098.1:p.Pro8845=
XM_017010610.1:c.26514A>T (SYNE1) XP_016866099.1:p.Pro8838=
XM_017010611.2:c.26508A>T (SYNE1) XP_016866100.1:p.Pro8836=
XM_017010612.1:c.26457A>T (SYNE1) XP_016866101.1:p.Pro8819=
XM_017010613.1:c.26421A>T (SYNE1) XP_016866102.1:p.Pro8807=
XM_017010614.1:c.26379A>T (SYNE1) XP_016866103.1:p.Pro8793=
XM_017010615.1:c.26268A>T (SYNE1) XP_016866104.1:p.Pro8756=
XM_017010616.1:c.*199A>T (SYNE1) XP_016866105.1:n.*199A>T
XM_017010617.1:c.*199A>T (SYNE1) XP_016866106.1:n.*199A>T
XM_017010618.1:c.*199A>T (SYNE1) XP_016866107.1:n.*199A>T
XM_017010619.1:c.24810A>T (SYNE1) XP_016866108.1:p.Pro8270=
NM_182961.4:c.26388A>T (SYNE1) MANE Select NP_892006.3:p.Pro8796=
NM_001328100.2:c.851-2824T>A (ESR1) NP_001315029.1:n.851-2824T>A
NM_001347701.2:c.*199A>T (SYNE1) NP_001334630.1:n.*199A>T
NM_001347702.2:c.2922A>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro974=
NM_033071.5:c.26244A>T (SYNE1) NP_149062.2:p.Pro8748=