Canonical Allele Identifier: CA452969691

Linked Data

MyVariant Identifiers: chr6:g.152443685C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122550C>G , CM000668.2:g.152122550C>G GRCh38
NC_000006.11:g.152443685C>G , CM000668.1:g.152443685C>G GRCh37
NC_000006.10:g.152485378C>G NCBI36
NG_012855.1:g.519850G>C
NG_008493.2:g.470860C>G
NG_012855.2:g.519850G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2814G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gly938=
ENST00000367255.10:c.26280G>C (SYNE1) MANE Select ENSP00000356224.5:p.Gly8760=
ENST00000423061.6:c.26136G>C (SYNE1) ENSP00000396024.1:p.Gly8712=
ENST00000672154.1:c.1623G>C (SYNE1)
ENST00000672169.1:c.1998G>C (SYNE1)
ENST00000673173.1:c.1865G>C (SYNE1)
ENST00000673451.1:c.2130G>C (SYNE1) ENSP00000500189.1:n.2130G>C
ENST00000341594.9:c.25065G>C (SYNE1) ENSP00000341887.6:p.Gly8355=
ENST00000347037.9:n.3028G>C (SYNE1)
ENST00000354674.4:c.2814G>C (SYNE1) ENSP00000346701.4:p.Gly938=
ENST00000367251.7:c.5056G>C (SYNE1) ENSP00000356220.3:n.5056G>C
ENST00000367255.9:c.26280G>C (SYNE1) ENSP00000356224.5:p.Gly8760=
ENST00000367256.9:n.9972G>C (SYNE1)
ENST00000367257.8:c.4159G>C (SYNE1) ENSP00000356226.4:n.4159G>C
ENST00000409694.6:n.9864G>C (SYNE1)
ENST00000423061.5:c.26136G>C (SYNE1) ENSP00000396024.1:p.Gly8712=
ENST00000427531.6:c.851-2716C>G (ESR1) ENSP00000394721.2:n.851-2716C>G
ENST00000460912.6:n.2894G>C (SYNE1)
ENST00000478916.5:n.6917G>C (SYNE1)
ENST00000539504.5:c.2745G>C (SYNE1) ENSP00000441052.1:p.Gly915=
NM_033071.3:c.26136G>C (SYNE1) NP_149062.1:p.Gly8712=
NM_182961.3:c.26280G>C (SYNE1) NP_892006.3:p.Gly8760=
XM_006715407.1:c.26427G>C (SYNE1) XP_006715470.1:p.Gly8809=
XM_006715408.1:c.26415G>C (SYNE1) XP_006715471.1:p.Gly8805=
XM_006715409.1:c.26406G>C (SYNE1) XP_006715472.1:p.Gly8802=
XM_006715410.1:c.26385G>C (SYNE1) XP_006715473.1:p.Gly8795=
XM_006715411.1:c.26376G>C (SYNE1) XP_006715474.1:p.Gly8792=
XM_006715412.1:c.26370G>C (SYNE1) XP_006715475.1:p.Gly8790=
XM_006715413.1:c.26358G>C (SYNE1) XP_006715476.1:p.Gly8786=
XM_006715414.1:c.26355G>C (SYNE1) XP_006715477.1:p.Gly8785=
XM_006715415.1:c.26316G>C (SYNE1) XP_006715478.1:p.Gly8772=
XM_006715416.1:c.26301G>C (SYNE1) XP_006715479.1:p.Gly8767=
XM_006715417.1:c.26286G>C (SYNE1) XP_006715480.1:p.Gly8762=
XM_006715420.1:c.26274G>C (SYNE1) XP_006715483.1:p.Gly8758=
XM_006715421.1:c.26271G>C (SYNE1) XP_006715484.1:p.Gly8757=
XM_006715422.1:c.26268G>C (SYNE1) XP_006715485.1:p.Gly8756=
XM_006715423.1:c.*91G>C (SYNE1) XP_006715486.1:n.*91G>C
XM_006715424.1:c.*91G>C (SYNE1) XP_006715487.1:n.*91G>C
XM_006715425.1:c.*91G>C (SYNE1) XP_006715488.1:n.*91G>C
XM_011535641.1:c.26424G>C (SYNE1) XP_011533943.1:p.Gly8808=
XM_011535642.1:c.26412G>C (SYNE1) XP_011533944.1:p.Gly8804=
XM_011535643.1:c.26262G>C (SYNE1) XP_011533945.1:p.Gly8754=
XM_011535644.1:c.24702G>C (SYNE1) XP_011533946.1:p.Gly8234=
XM_011535645.1:c.24195G>C (SYNE1) XP_011533947.1:p.Gly8065=
XM_011535647.1:c.19662G>C (SYNE1) XP_011533949.1:p.Gly6554=
NM_001328100.1:c.851-2716C>G (ESR1) NP_001315029.1:n.851-2716C>G
NM_001347701.1:c.*91G>C (SYNE1) NP_001334630.1:n.*91G>C
NM_001347702.1:c.2814G>C (SYNE1) NP_001334631.1:p.Gly938=
XM_006715408.2:c.26415G>C (SYNE1) XP_006715471.1:p.Gly8805=
XM_006715410.2:c.26385G>C (SYNE1) XP_006715473.1:p.Gly8795=
XM_006715412.2:c.26370G>C (SYNE1) XP_006715475.1:p.Gly8790=
XM_006715413.2:c.26358G>C (SYNE1) XP_006715476.1:p.Gly8786=
XM_006715415.2:c.26316G>C (SYNE1) XP_006715478.1:p.Gly8772=
XM_006715416.2:c.26301G>C (SYNE1) XP_006715479.1:p.Gly8767=
XM_006715417.2:c.26286G>C (SYNE1) XP_006715480.1:p.Gly8762=
XM_006715420.2:c.26274G>C (SYNE1) XP_006715483.1:p.Gly8758=
XM_006715421.2:c.26271G>C (SYNE1) XP_006715484.1:p.Gly8757=
XM_006715423.2:c.*91G>C (SYNE1) XP_006715486.1:n.*91G>C
XM_006715424.2:c.*91G>C (SYNE1) XP_006715487.1:n.*91G>C
XM_006715425.2:c.*91G>C (SYNE1) XP_006715488.1:n.*91G>C
XM_011535641.2:c.26424G>C (SYNE1) XP_011533943.1:p.Gly8808=
XM_011535642.2:c.26412G>C (SYNE1) XP_011533944.1:p.Gly8804=
XM_011535645.2:c.24195G>C (SYNE1) XP_011533947.1:p.Gly8065=
XM_017010608.1:c.26427G>C (SYNE1) XP_016866097.1:p.Gly8809=
XM_017010609.1:c.26427G>C (SYNE1) XP_016866098.1:p.Gly8809=
XM_017010610.1:c.26406G>C (SYNE1) XP_016866099.1:p.Gly8802=
XM_017010611.2:c.26400G>C (SYNE1) XP_016866100.1:p.Gly8800=
XM_017010612.1:c.26349G>C (SYNE1) XP_016866101.1:p.Gly8783=
XM_017010613.1:c.26313G>C (SYNE1) XP_016866102.1:p.Gly8771=
XM_017010614.1:c.26271G>C (SYNE1) XP_016866103.1:p.Gly8757=
XM_017010615.1:c.26160G>C (SYNE1) XP_016866104.1:p.Gly8720=
XM_017010616.1:c.*91G>C (SYNE1) XP_016866105.1:n.*91G>C
XM_017010617.1:c.*91G>C (SYNE1) XP_016866106.1:n.*91G>C
XM_017010618.1:c.*91G>C (SYNE1) XP_016866107.1:n.*91G>C
XM_017010619.1:c.24702G>C (SYNE1) XP_016866108.1:p.Gly8234=
NM_182961.4:c.26280G>C (SYNE1) MANE Select NP_892006.3:p.Gly8760=
NM_001328100.2:c.851-2716C>G (ESR1) NP_001315029.1:n.851-2716C>G
NM_001347701.2:c.*91G>C (SYNE1) NP_001334630.1:n.*91G>C
NM_001347702.2:c.2814G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gly938=
NM_033071.5:c.26136G>C (SYNE1) NP_149062.2:p.Gly8712=