Canonical Allele Identifier: CA366088994

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122587G>A , CM000668.2:g.152122587G>A GRCh38
NC_000006.11:g.152443722G>A , CM000668.1:g.152443722G>A GRCh37
NC_000006.10:g.152485415G>A NCBI36
NG_012855.1:g.519813C>T
NG_008493.2:g.470897G>A
NG_012855.2:g.519813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2777C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Ala926Val
ENST00000367255.10:c.26243C>T (SYNE1) MANE Select ENSP00000356224.5:p.Ala8748Val
ENST00000423061.6:c.26099C>T (SYNE1) ENSP00000396024.1:p.Ala8700Val
ENST00000672154.1:c.1586C>T (SYNE1)
ENST00000672169.1:c.1961C>T (SYNE1)
ENST00000673173.1:c.1828C>T (SYNE1)
ENST00000673451.1:c.2093C>T (SYNE1) ENSP00000500189.1:n.2093C>T
ENST00000341594.9:c.25028C>T (SYNE1) ENSP00000341887.6:p.Ala8343Val
ENST00000347037.9:n.2991C>T (SYNE1)
ENST00000354674.4:c.2777C>T (SYNE1) ENSP00000346701.4:p.Ala926Val
ENST00000367251.7:c.5019C>T (SYNE1) ENSP00000356220.3:n.5019C>T
ENST00000367255.9:c.26243C>T (SYNE1) ENSP00000356224.5:p.Ala8748Val
ENST00000367256.9:n.9935C>T (SYNE1)
ENST00000367257.8:c.4122C>T (SYNE1) ENSP00000356226.4:n.4122C>T
ENST00000409694.6:n.9827C>T (SYNE1)
ENST00000423061.5:c.26099C>T (SYNE1) ENSP00000396024.1:p.Ala8700Val
ENST00000427531.6:c.851-2679G>A (ESR1) ENSP00000394721.2:n.851-2679G>A
ENST00000460912.6:n.2857C>T (SYNE1)
ENST00000478916.5:n.6880C>T (SYNE1)
ENST00000539504.5:c.2708C>T (SYNE1) ENSP00000441052.1:p.Ala903Val
NM_033071.3:c.26099C>T (SYNE1) NP_149062.1:p.Ala8700Val
NM_182961.3:c.26243C>T (SYNE1) NP_892006.3:p.Ala8748Val
XM_006715407.1:c.26390C>T (SYNE1) XP_006715470.1:p.Ala8797Val
XM_006715408.1:c.26378C>T (SYNE1) XP_006715471.1:p.Ala8793Val
XM_006715409.1:c.26369C>T (SYNE1) XP_006715472.1:p.Ala8790Val
XM_006715410.1:c.26348C>T (SYNE1) XP_006715473.1:p.Ala8783Val
XM_006715411.1:c.26339C>T (SYNE1) XP_006715474.1:p.Ala8780Val
XM_006715412.1:c.26333C>T (SYNE1) XP_006715475.1:p.Ala8778Val
XM_006715413.1:c.26321C>T (SYNE1) XP_006715476.1:p.Ala8774Val
XM_006715414.1:c.26318C>T (SYNE1) XP_006715477.1:p.Ala8773Val
XM_006715415.1:c.26279C>T (SYNE1) XP_006715478.1:p.Ala8760Val
XM_006715416.1:c.26264C>T (SYNE1) XP_006715479.1:p.Ala8755Val
XM_006715417.1:c.26249C>T (SYNE1) XP_006715480.1:p.Ala8750Val
XM_006715420.1:c.26237C>T (SYNE1) XP_006715483.1:p.Ala8746Val
XM_006715421.1:c.26234C>T (SYNE1) XP_006715484.1:p.Ala8745Val
XM_006715422.1:c.26231C>T (SYNE1) XP_006715485.1:p.Ala8744Val
XM_006715423.1:c.*54C>T (SYNE1) XP_006715486.1:n.*54C>T
XM_006715424.1:c.*54C>T (SYNE1) XP_006715487.1:n.*54C>T
XM_006715425.1:c.*54C>T (SYNE1) XP_006715488.1:n.*54C>T
XM_011535641.1:c.26387C>T (SYNE1) XP_011533943.1:p.Ala8796Val
XM_011535642.1:c.26375C>T (SYNE1) XP_011533944.1:p.Ala8792Val
XM_011535643.1:c.26225C>T (SYNE1) XP_011533945.1:p.Ala8742Val
XM_011535644.1:c.24665C>T (SYNE1) XP_011533946.1:p.Ala8222Val
XM_011535645.1:c.24158C>T (SYNE1) XP_011533947.1:p.Ala8053Val
XM_011535647.1:c.19625C>T (SYNE1) XP_011533949.1:p.Ala6542Val
NM_001328100.1:c.851-2679G>A (ESR1) NP_001315029.1:n.851-2679G>A
NM_001347701.1:c.*54C>T (SYNE1) NP_001334630.1:n.*54C>T
NM_001347702.1:c.2777C>T (SYNE1) NP_001334631.1:p.Ala926Val
XM_006715408.2:c.26378C>T (SYNE1) XP_006715471.1:p.Ala8793Val
XM_006715410.2:c.26348C>T (SYNE1) XP_006715473.1:p.Ala8783Val
XM_006715412.2:c.26333C>T (SYNE1) XP_006715475.1:p.Ala8778Val
XM_006715413.2:c.26321C>T (SYNE1) XP_006715476.1:p.Ala8774Val
XM_006715415.2:c.26279C>T (SYNE1) XP_006715478.1:p.Ala8760Val
XM_006715416.2:c.26264C>T (SYNE1) XP_006715479.1:p.Ala8755Val
XM_006715417.2:c.26249C>T (SYNE1) XP_006715480.1:p.Ala8750Val
XM_006715420.2:c.26237C>T (SYNE1) XP_006715483.1:p.Ala8746Val
XM_006715421.2:c.26234C>T (SYNE1) XP_006715484.1:p.Ala8745Val
XM_006715423.2:c.*54C>T (SYNE1) XP_006715486.1:n.*54C>T
XM_006715424.2:c.*54C>T (SYNE1) XP_006715487.1:n.*54C>T
XM_006715425.2:c.*54C>T (SYNE1) XP_006715488.1:n.*54C>T
XM_011535641.2:c.26387C>T (SYNE1) XP_011533943.1:p.Ala8796Val
XM_011535642.2:c.26375C>T (SYNE1) XP_011533944.1:p.Ala8792Val
XM_011535645.2:c.24158C>T (SYNE1) XP_011533947.1:p.Ala8053Val
XM_017010608.1:c.26390C>T (SYNE1) XP_016866097.1:p.Ala8797Val
XM_017010609.1:c.26390C>T (SYNE1) XP_016866098.1:p.Ala8797Val
XM_017010610.1:c.26369C>T (SYNE1) XP_016866099.1:p.Ala8790Val
XM_017010611.2:c.26363C>T (SYNE1) XP_016866100.1:p.Ala8788Val
XM_017010612.1:c.26312C>T (SYNE1) XP_016866101.1:p.Ala8771Val
XM_017010613.1:c.26276C>T (SYNE1) XP_016866102.1:p.Ala8759Val
XM_017010614.1:c.26234C>T (SYNE1) XP_016866103.1:p.Ala8745Val
XM_017010615.1:c.26123C>T (SYNE1) XP_016866104.1:p.Ala8708Val
XM_017010616.1:c.*54C>T (SYNE1) XP_016866105.1:n.*54C>T
XM_017010617.1:c.*54C>T (SYNE1) XP_016866106.1:n.*54C>T
XM_017010618.1:c.*54C>T (SYNE1) XP_016866107.1:n.*54C>T
XM_017010619.1:c.24665C>T (SYNE1) XP_016866108.1:p.Ala8222Val
NM_182961.4:c.26243C>T (SYNE1) MANE Select NP_892006.3:p.Ala8748Val
NM_001328100.2:c.851-2679G>A (ESR1) NP_001315029.1:n.851-2679G>A
NM_001347701.2:c.*54C>T (SYNE1) NP_001334630.1:n.*54C>T
NM_001347702.2:c.2777C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Ala926Val
NM_033071.5:c.26099C>T (SYNE1) NP_149062.2:p.Ala8700Val