Canonical Allele Identifier: CA366089128

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122620C>G , CM000668.2:g.152122620C>G GRCh38
NC_000006.11:g.152443755C>G , CM000668.1:g.152443755C>G GRCh37
NC_000006.10:g.152485448C>G NCBI36
NG_012855.1:g.519780G>C
NG_008493.2:g.470930C>G
NG_012855.2:g.519780G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2744G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly915Ala
ENST00000367255.10:c.26210G>C (SYNE1) MANE Select ENSP00000356224.5:p.Gly8737Ala
ENST00000423061.6:c.26066G>C (SYNE1) ENSP00000396024.1:p.Gly8689Ala
ENST00000672154.1:c.1553G>C (SYNE1)
ENST00000672169.1:c.1928G>C (SYNE1)
ENST00000673173.1:c.1795G>C (SYNE1)
ENST00000673451.1:c.2060G>C (SYNE1) ENSP00000500189.1:n.2060G>C
ENST00000341594.9:c.24995G>C (SYNE1) ENSP00000341887.6:p.Gly8332Ala
ENST00000347037.9:n.2958G>C (SYNE1)
ENST00000354674.4:c.2744G>C (SYNE1) ENSP00000346701.4:p.Gly915Ala
ENST00000367251.7:c.4986G>C (SYNE1) ENSP00000356220.3:n.4986G>C
ENST00000367255.9:c.26210G>C (SYNE1) ENSP00000356224.5:p.Gly8737Ala
ENST00000367256.9:n.9902G>C (SYNE1)
ENST00000367257.8:c.4089G>C (SYNE1) ENSP00000356226.4:n.4089G>C
ENST00000409694.6:n.9794G>C (SYNE1)
ENST00000423061.5:c.26066G>C (SYNE1) ENSP00000396024.1:p.Gly8689Ala
ENST00000427531.6:c.851-2646C>G (ESR1) ENSP00000394721.2:n.851-2646C>G
ENST00000460912.6:n.2824G>C (SYNE1)
ENST00000478916.5:n.6847G>C (SYNE1)
ENST00000536990.5:n.2988G>C (SYNE1)
ENST00000539504.5:c.2675G>C (SYNE1) ENSP00000441052.1:p.Gly892Ala
NM_033071.3:c.26066G>C (SYNE1) NP_149062.1:p.Gly8689Ala
NM_182961.3:c.26210G>C (SYNE1) NP_892006.3:p.Gly8737Ala
XM_006715407.1:c.26357G>C (SYNE1) XP_006715470.1:p.Gly8786Ala
XM_006715408.1:c.26345G>C (SYNE1) XP_006715471.1:p.Gly8782Ala
XM_006715409.1:c.26336G>C (SYNE1) XP_006715472.1:p.Gly8779Ala
XM_006715410.1:c.26315G>C (SYNE1) XP_006715473.1:p.Gly8772Ala
XM_006715411.1:c.26306G>C (SYNE1) XP_006715474.1:p.Gly8769Ala
XM_006715412.1:c.26300G>C (SYNE1) XP_006715475.1:p.Gly8767Ala
XM_006715413.1:c.26288G>C (SYNE1) XP_006715476.1:p.Gly8763Ala
XM_006715414.1:c.26285G>C (SYNE1) XP_006715477.1:p.Gly8762Ala
XM_006715415.1:c.26246G>C (SYNE1) XP_006715478.1:p.Gly8749Ala
XM_006715416.1:c.26231G>C (SYNE1) XP_006715479.1:p.Gly8744Ala
XM_006715417.1:c.26216G>C (SYNE1) XP_006715480.1:p.Gly8739Ala
XM_006715420.1:c.26204G>C (SYNE1) XP_006715483.1:p.Gly8735Ala
XM_006715421.1:c.26201G>C (SYNE1) XP_006715484.1:p.Gly8734Ala
XM_006715422.1:c.26198G>C (SYNE1) XP_006715485.1:p.Gly8733Ala
XM_006715423.1:c.*21G>C (SYNE1) XP_006715486.1:n.*21G>C
XM_006715424.1:c.*21G>C (SYNE1) XP_006715487.1:n.*21G>C
XM_006715425.1:c.*21G>C (SYNE1) XP_006715488.1:n.*21G>C
XM_011535641.1:c.26354G>C (SYNE1) XP_011533943.1:p.Gly8785Ala
XM_011535642.1:c.26342G>C (SYNE1) XP_011533944.1:p.Gly8781Ala
XM_011535643.1:c.26192G>C (SYNE1) XP_011533945.1:p.Gly8731Ala
XM_011535644.1:c.24632G>C (SYNE1) XP_011533946.1:p.Gly8211Ala
XM_011535645.1:c.24125G>C (SYNE1) XP_011533947.1:p.Gly8042Ala
XM_011535647.1:c.19592G>C (SYNE1) XP_011533949.1:p.Gly6531Ala
NM_001328100.1:c.851-2646C>G (ESR1) NP_001315029.1:n.851-2646C>G
NM_001347701.1:c.*21G>C (SYNE1) NP_001334630.1:n.*21G>C
NM_001347702.1:c.2744G>C (SYNE1) NP_001334631.1:p.Gly915Ala
XM_006715408.2:c.26345G>C (SYNE1) XP_006715471.1:p.Gly8782Ala
XM_006715410.2:c.26315G>C (SYNE1) XP_006715473.1:p.Gly8772Ala
XM_006715412.2:c.26300G>C (SYNE1) XP_006715475.1:p.Gly8767Ala
XM_006715413.2:c.26288G>C (SYNE1) XP_006715476.1:p.Gly8763Ala
XM_006715415.2:c.26246G>C (SYNE1) XP_006715478.1:p.Gly8749Ala
XM_006715416.2:c.26231G>C (SYNE1) XP_006715479.1:p.Gly8744Ala
XM_006715417.2:c.26216G>C (SYNE1) XP_006715480.1:p.Gly8739Ala
XM_006715420.2:c.26204G>C (SYNE1) XP_006715483.1:p.Gly8735Ala
XM_006715421.2:c.26201G>C (SYNE1) XP_006715484.1:p.Gly8734Ala
XM_006715423.2:c.*21G>C (SYNE1) XP_006715486.1:n.*21G>C
XM_006715424.2:c.*21G>C (SYNE1) XP_006715487.1:n.*21G>C
XM_006715425.2:c.*21G>C (SYNE1) XP_006715488.1:n.*21G>C
XM_011535641.2:c.26354G>C (SYNE1) XP_011533943.1:p.Gly8785Ala
XM_011535642.2:c.26342G>C (SYNE1) XP_011533944.1:p.Gly8781Ala
XM_011535645.2:c.24125G>C (SYNE1) XP_011533947.1:p.Gly8042Ala
XM_017010608.1:c.26357G>C (SYNE1) XP_016866097.1:p.Gly8786Ala
XM_017010609.1:c.26357G>C (SYNE1) XP_016866098.1:p.Gly8786Ala
XM_017010610.1:c.26336G>C (SYNE1) XP_016866099.1:p.Gly8779Ala
XM_017010611.2:c.26330G>C (SYNE1) XP_016866100.1:p.Gly8777Ala
XM_017010612.1:c.26279G>C (SYNE1) XP_016866101.1:p.Gly8760Ala
XM_017010613.1:c.26243G>C (SYNE1) XP_016866102.1:p.Gly8748Ala
XM_017010614.1:c.26201G>C (SYNE1) XP_016866103.1:p.Gly8734Ala
XM_017010615.1:c.26090G>C (SYNE1) XP_016866104.1:p.Gly8697Ala
XM_017010616.1:c.*21G>C (SYNE1) XP_016866105.1:n.*21G>C
XM_017010617.1:c.*21G>C (SYNE1) XP_016866106.1:n.*21G>C
XM_017010618.1:c.*21G>C (SYNE1) XP_016866107.1:n.*21G>C
XM_017010619.1:c.24632G>C (SYNE1) XP_016866108.1:p.Gly8211Ala
NM_182961.4:c.26210G>C (SYNE1) MANE Select NP_892006.3:p.Gly8737Ala
NM_001328100.2:c.851-2646C>G (ESR1) NP_001315029.1:n.851-2646C>G
NM_001347701.2:c.*21G>C (SYNE1) NP_001334630.1:n.*21G>C
NM_001347702.2:c.2744G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly915Ala
NM_033071.5:c.26066G>C (SYNE1) NP_149062.2:p.Gly8689Ala