Canonical Allele Identifier: CA366089013

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122591C>A , CM000668.2:g.152122591C>A GRCh38
NC_000006.11:g.152443726C>A , CM000668.1:g.152443726C>A GRCh37
NC_000006.10:g.152485419C>A NCBI36
NG_012855.1:g.519809G>T
NG_008493.2:g.470901C>A
NG_012855.2:g.519809G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2773G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala925Ser
ENST00000367255.10:c.26239G>T (SYNE1) MANE Select ENSP00000356224.5:p.Ala8747Ser
ENST00000423061.6:c.26095G>T (SYNE1) ENSP00000396024.1:p.Ala8699Ser
ENST00000672154.1:c.1582G>T (SYNE1)
ENST00000672169.1:c.1957G>T (SYNE1)
ENST00000673173.1:c.1824G>T (SYNE1)
ENST00000673451.1:c.2089G>T (SYNE1) ENSP00000500189.1:n.2089G>T
ENST00000341594.9:c.25024G>T (SYNE1) ENSP00000341887.6:p.Ala8342Ser
ENST00000347037.9:n.2987G>T (SYNE1)
ENST00000354674.4:c.2773G>T (SYNE1) ENSP00000346701.4:p.Ala925Ser
ENST00000367251.7:c.5015G>T (SYNE1) ENSP00000356220.3:n.5015G>T
ENST00000367255.9:c.26239G>T (SYNE1) ENSP00000356224.5:p.Ala8747Ser
ENST00000367256.9:n.9931G>T (SYNE1)
ENST00000367257.8:c.4118G>T (SYNE1) ENSP00000356226.4:n.4118G>T
ENST00000409694.6:n.9823G>T (SYNE1)
ENST00000423061.5:c.26095G>T (SYNE1) ENSP00000396024.1:p.Ala8699Ser
ENST00000427531.6:c.851-2675C>A (ESR1) ENSP00000394721.2:n.851-2675C>A
ENST00000460912.6:n.2853G>T (SYNE1)
ENST00000478916.5:n.6876G>T (SYNE1)
ENST00000539504.5:c.2704G>T (SYNE1) ENSP00000441052.1:p.Ala902Ser
NM_033071.3:c.26095G>T (SYNE1) NP_149062.1:p.Ala8699Ser
NM_182961.3:c.26239G>T (SYNE1) NP_892006.3:p.Ala8747Ser
XM_006715407.1:c.26386G>T (SYNE1) XP_006715470.1:p.Ala8796Ser
XM_006715408.1:c.26374G>T (SYNE1) XP_006715471.1:p.Ala8792Ser
XM_006715409.1:c.26365G>T (SYNE1) XP_006715472.1:p.Ala8789Ser
XM_006715410.1:c.26344G>T (SYNE1) XP_006715473.1:p.Ala8782Ser
XM_006715411.1:c.26335G>T (SYNE1) XP_006715474.1:p.Ala8779Ser
XM_006715412.1:c.26329G>T (SYNE1) XP_006715475.1:p.Ala8777Ser
XM_006715413.1:c.26317G>T (SYNE1) XP_006715476.1:p.Ala8773Ser
XM_006715414.1:c.26314G>T (SYNE1) XP_006715477.1:p.Ala8772Ser
XM_006715415.1:c.26275G>T (SYNE1) XP_006715478.1:p.Ala8759Ser
XM_006715416.1:c.26260G>T (SYNE1) XP_006715479.1:p.Ala8754Ser
XM_006715417.1:c.26245G>T (SYNE1) XP_006715480.1:p.Ala8749Ser
XM_006715420.1:c.26233G>T (SYNE1) XP_006715483.1:p.Ala8745Ser
XM_006715421.1:c.26230G>T (SYNE1) XP_006715484.1:p.Ala8744Ser
XM_006715422.1:c.26227G>T (SYNE1) XP_006715485.1:p.Ala8743Ser
XM_006715423.1:c.*50G>T (SYNE1) XP_006715486.1:n.*50G>T
XM_006715424.1:c.*50G>T (SYNE1) XP_006715487.1:n.*50G>T
XM_006715425.1:c.*50G>T (SYNE1) XP_006715488.1:n.*50G>T
XM_011535641.1:c.26383G>T (SYNE1) XP_011533943.1:p.Ala8795Ser
XM_011535642.1:c.26371G>T (SYNE1) XP_011533944.1:p.Ala8791Ser
XM_011535643.1:c.26221G>T (SYNE1) XP_011533945.1:p.Ala8741Ser
XM_011535644.1:c.24661G>T (SYNE1) XP_011533946.1:p.Ala8221Ser
XM_011535645.1:c.24154G>T (SYNE1) XP_011533947.1:p.Ala8052Ser
XM_011535647.1:c.19621G>T (SYNE1) XP_011533949.1:p.Ala6541Ser
NM_001328100.1:c.851-2675C>A (ESR1) NP_001315029.1:n.851-2675C>A
NM_001347701.1:c.*50G>T (SYNE1) NP_001334630.1:n.*50G>T
NM_001347702.1:c.2773G>T (SYNE1) NP_001334631.1:p.Ala925Ser
XM_006715408.2:c.26374G>T (SYNE1) XP_006715471.1:p.Ala8792Ser
XM_006715410.2:c.26344G>T (SYNE1) XP_006715473.1:p.Ala8782Ser
XM_006715412.2:c.26329G>T (SYNE1) XP_006715475.1:p.Ala8777Ser
XM_006715413.2:c.26317G>T (SYNE1) XP_006715476.1:p.Ala8773Ser
XM_006715415.2:c.26275G>T (SYNE1) XP_006715478.1:p.Ala8759Ser
XM_006715416.2:c.26260G>T (SYNE1) XP_006715479.1:p.Ala8754Ser
XM_006715417.2:c.26245G>T (SYNE1) XP_006715480.1:p.Ala8749Ser
XM_006715420.2:c.26233G>T (SYNE1) XP_006715483.1:p.Ala8745Ser
XM_006715421.2:c.26230G>T (SYNE1) XP_006715484.1:p.Ala8744Ser
XM_006715423.2:c.*50G>T (SYNE1) XP_006715486.1:n.*50G>T
XM_006715424.2:c.*50G>T (SYNE1) XP_006715487.1:n.*50G>T
XM_006715425.2:c.*50G>T (SYNE1) XP_006715488.1:n.*50G>T
XM_011535641.2:c.26383G>T (SYNE1) XP_011533943.1:p.Ala8795Ser
XM_011535642.2:c.26371G>T (SYNE1) XP_011533944.1:p.Ala8791Ser
XM_011535645.2:c.24154G>T (SYNE1) XP_011533947.1:p.Ala8052Ser
XM_017010608.1:c.26386G>T (SYNE1) XP_016866097.1:p.Ala8796Ser
XM_017010609.1:c.26386G>T (SYNE1) XP_016866098.1:p.Ala8796Ser
XM_017010610.1:c.26365G>T (SYNE1) XP_016866099.1:p.Ala8789Ser
XM_017010611.2:c.26359G>T (SYNE1) XP_016866100.1:p.Ala8787Ser
XM_017010612.1:c.26308G>T (SYNE1) XP_016866101.1:p.Ala8770Ser
XM_017010613.1:c.26272G>T (SYNE1) XP_016866102.1:p.Ala8758Ser
XM_017010614.1:c.26230G>T (SYNE1) XP_016866103.1:p.Ala8744Ser
XM_017010615.1:c.26119G>T (SYNE1) XP_016866104.1:p.Ala8707Ser
XM_017010616.1:c.*50G>T (SYNE1) XP_016866105.1:n.*50G>T
XM_017010617.1:c.*50G>T (SYNE1) XP_016866106.1:n.*50G>T
XM_017010618.1:c.*50G>T (SYNE1) XP_016866107.1:n.*50G>T
XM_017010619.1:c.24661G>T (SYNE1) XP_016866108.1:p.Ala8221Ser
NM_182961.4:c.26239G>T (SYNE1) MANE Select NP_892006.3:p.Ala8747Ser
NM_001328100.2:c.851-2675C>A (ESR1) NP_001315029.1:n.851-2675C>A
NM_001347701.2:c.*50G>T (SYNE1) NP_001334630.1:n.*50G>T
NM_001347702.2:c.2773G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala925Ser
NM_033071.5:c.26095G>T (SYNE1) NP_149062.2:p.Ala8699Ser