Canonical Allele Identifier: CA452969465

Linked Data

MyVariant Identifiers: chr6:g.152443592C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122457C>G , CM000668.2:g.152122457C>G GRCh38
NC_000006.11:g.152443592C>G , CM000668.1:g.152443592C>G GRCh37
NC_000006.10:g.152485285C>G NCBI36
NG_012855.1:g.519943G>C
NG_008493.2:g.470767C>G
NG_012855.2:g.519943G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2907G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Thr969=
ENST00000367255.10:c.26373G>C (SYNE1) MANE Select ENSP00000356224.5:p.Thr8791=
ENST00000423061.6:c.26229G>C (SYNE1) ENSP00000396024.1:p.Thr8743=
ENST00000672154.1:c.1716G>C (SYNE1)
ENST00000672169.1:c.2091G>C (SYNE1)
ENST00000673173.1:c.1958G>C (SYNE1)
ENST00000673451.1:c.2223G>C (SYNE1) ENSP00000500189.1:n.2223G>C
ENST00000341594.9:c.25158G>C (SYNE1) ENSP00000341887.6:p.Thr8386=
ENST00000347037.9:n.3121G>C (SYNE1)
ENST00000354674.4:c.2907G>C (SYNE1) ENSP00000346701.4:p.Thr969=
ENST00000367251.7:c.5149G>C (SYNE1) ENSP00000356220.3:n.5149G>C
ENST00000367255.9:c.26373G>C (SYNE1) ENSP00000356224.5:p.Thr8791=
ENST00000367256.9:n.10065G>C (SYNE1)
ENST00000367257.8:c.4252G>C (SYNE1) ENSP00000356226.4:n.4252G>C
ENST00000409694.6:n.9957G>C (SYNE1)
ENST00000423061.5:c.26229G>C (SYNE1) ENSP00000396024.1:p.Thr8743=
ENST00000427531.6:c.851-2809C>G (ESR1) ENSP00000394721.2:n.851-2809C>G
ENST00000460912.6:n.2987G>C (SYNE1)
ENST00000478916.5:n.7010G>C (SYNE1)
ENST00000539504.5:c.2838G>C (SYNE1) ENSP00000441052.1:p.Thr946=
NM_033071.3:c.26229G>C (SYNE1) NP_149062.1:p.Thr8743=
NM_182961.3:c.26373G>C (SYNE1) NP_892006.3:p.Thr8791=
XM_006715407.1:c.26520G>C (SYNE1) XP_006715470.1:p.Thr8840=
XM_006715408.1:c.26508G>C (SYNE1) XP_006715471.1:p.Thr8836=
XM_006715409.1:c.26499G>C (SYNE1) XP_006715472.1:p.Thr8833=
XM_006715410.1:c.26478G>C (SYNE1) XP_006715473.1:p.Thr8826=
XM_006715411.1:c.26469G>C (SYNE1) XP_006715474.1:p.Thr8823=
XM_006715412.1:c.26463G>C (SYNE1) XP_006715475.1:p.Thr8821=
XM_006715413.1:c.26451G>C (SYNE1) XP_006715476.1:p.Thr8817=
XM_006715414.1:c.26448G>C (SYNE1) XP_006715477.1:p.Thr8816=
XM_006715415.1:c.26409G>C (SYNE1) XP_006715478.1:p.Thr8803=
XM_006715416.1:c.26394G>C (SYNE1) XP_006715479.1:p.Thr8798=
XM_006715417.1:c.26379G>C (SYNE1) XP_006715480.1:p.Thr8793=
XM_006715420.1:c.26367G>C (SYNE1) XP_006715483.1:p.Thr8789=
XM_006715421.1:c.26364G>C (SYNE1) XP_006715484.1:p.Thr8788=
XM_006715422.1:c.26361G>C (SYNE1) XP_006715485.1:p.Thr8787=
XM_006715423.1:c.*184G>C (SYNE1) XP_006715486.1:n.*184G>C
XM_006715424.1:c.*184G>C (SYNE1) XP_006715487.1:n.*184G>C
XM_006715425.1:c.*184G>C (SYNE1) XP_006715488.1:n.*184G>C
XM_011535641.1:c.26517G>C (SYNE1) XP_011533943.1:p.Thr8839=
XM_011535642.1:c.26505G>C (SYNE1) XP_011533944.1:p.Thr8835=
XM_011535643.1:c.26355G>C (SYNE1) XP_011533945.1:p.Thr8785=
XM_011535644.1:c.24795G>C (SYNE1) XP_011533946.1:p.Thr8265=
XM_011535645.1:c.24288G>C (SYNE1) XP_011533947.1:p.Thr8096=
XM_011535647.1:c.19755G>C (SYNE1) XP_011533949.1:p.Thr6585=
NM_001328100.1:c.851-2809C>G (ESR1) NP_001315029.1:n.851-2809C>G
NM_001347701.1:c.*184G>C (SYNE1) NP_001334630.1:n.*184G>C
NM_001347702.1:c.2907G>C (SYNE1) NP_001334631.1:p.Thr969=
XM_006715408.2:c.26508G>C (SYNE1) XP_006715471.1:p.Thr8836=
XM_006715410.2:c.26478G>C (SYNE1) XP_006715473.1:p.Thr8826=
XM_006715412.2:c.26463G>C (SYNE1) XP_006715475.1:p.Thr8821=
XM_006715413.2:c.26451G>C (SYNE1) XP_006715476.1:p.Thr8817=
XM_006715415.2:c.26409G>C (SYNE1) XP_006715478.1:p.Thr8803=
XM_006715416.2:c.26394G>C (SYNE1) XP_006715479.1:p.Thr8798=
XM_006715417.2:c.26379G>C (SYNE1) XP_006715480.1:p.Thr8793=
XM_006715420.2:c.26367G>C (SYNE1) XP_006715483.1:p.Thr8789=
XM_006715421.2:c.26364G>C (SYNE1) XP_006715484.1:p.Thr8788=
XM_006715423.2:c.*184G>C (SYNE1) XP_006715486.1:n.*184G>C
XM_006715424.2:c.*184G>C (SYNE1) XP_006715487.1:n.*184G>C
XM_006715425.2:c.*184G>C (SYNE1) XP_006715488.1:n.*184G>C
XM_011535641.2:c.26517G>C (SYNE1) XP_011533943.1:p.Thr8839=
XM_011535642.2:c.26505G>C (SYNE1) XP_011533944.1:p.Thr8835=
XM_011535645.2:c.24288G>C (SYNE1) XP_011533947.1:p.Thr8096=
XM_017010608.1:c.26520G>C (SYNE1) XP_016866097.1:p.Thr8840=
XM_017010609.1:c.26520G>C (SYNE1) XP_016866098.1:p.Thr8840=
XM_017010610.1:c.26499G>C (SYNE1) XP_016866099.1:p.Thr8833=
XM_017010611.2:c.26493G>C (SYNE1) XP_016866100.1:p.Thr8831=
XM_017010612.1:c.26442G>C (SYNE1) XP_016866101.1:p.Thr8814=
XM_017010613.1:c.26406G>C (SYNE1) XP_016866102.1:p.Thr8802=
XM_017010614.1:c.26364G>C (SYNE1) XP_016866103.1:p.Thr8788=
XM_017010615.1:c.26253G>C (SYNE1) XP_016866104.1:p.Thr8751=
XM_017010616.1:c.*184G>C (SYNE1) XP_016866105.1:n.*184G>C
XM_017010617.1:c.*184G>C (SYNE1) XP_016866106.1:n.*184G>C
XM_017010618.1:c.*184G>C (SYNE1) XP_016866107.1:n.*184G>C
XM_017010619.1:c.24795G>C (SYNE1) XP_016866108.1:p.Thr8265=
NM_182961.4:c.26373G>C (SYNE1) MANE Select NP_892006.3:p.Thr8791=
NM_001328100.2:c.851-2809C>G (ESR1) NP_001315029.1:n.851-2809C>G
NM_001347701.2:c.*184G>C (SYNE1) NP_001334630.1:n.*184G>C
NM_001347702.2:c.2907G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Thr969=
NM_033071.5:c.26229G>C (SYNE1) NP_149062.2:p.Thr8743=