Canonical Allele Identifier: CA366088955

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122576G>T , CM000668.2:g.152122576G>T GRCh38
NC_000006.11:g.152443711G>T , CM000668.1:g.152443711G>T GRCh37
NC_000006.10:g.152485404G>T NCBI36
NG_012855.1:g.519824C>A
NG_008493.2:g.470886G>T
NG_012855.2:g.519824C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2788C>A (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Gln930Lys
ENST00000367255.10:c.26254C>A (SYNE1) MANE Select ENSP00000356224.5:p.Gln8752Lys
ENST00000423061.6:c.26110C>A (SYNE1) ENSP00000396024.1:p.Gln8704Lys
ENST00000672154.1:c.1597C>A (SYNE1)
ENST00000672169.1:c.1972C>A (SYNE1)
ENST00000673173.1:c.1839C>A (SYNE1)
ENST00000673451.1:c.2104C>A (SYNE1) ENSP00000500189.1:n.2104C>A
ENST00000341594.9:c.25039C>A (SYNE1) ENSP00000341887.6:p.Gln8347Lys
ENST00000347037.9:n.3002C>A (SYNE1)
ENST00000354674.4:c.2788C>A (SYNE1) ENSP00000346701.4:p.Gln930Lys
ENST00000367251.7:c.5030C>A (SYNE1) ENSP00000356220.3:n.5030C>A
ENST00000367255.9:c.26254C>A (SYNE1) ENSP00000356224.5:p.Gln8752Lys
ENST00000367256.9:n.9946C>A (SYNE1)
ENST00000367257.8:c.4133C>A (SYNE1) ENSP00000356226.4:n.4133C>A
ENST00000409694.6:n.9838C>A (SYNE1)
ENST00000423061.5:c.26110C>A (SYNE1) ENSP00000396024.1:p.Gln8704Lys
ENST00000427531.6:c.851-2690G>T (ESR1) ENSP00000394721.2:n.851-2690G>T
ENST00000460912.6:n.2868C>A (SYNE1)
ENST00000478916.5:n.6891C>A (SYNE1)
ENST00000539504.5:c.2719C>A (SYNE1) ENSP00000441052.1:p.Gln907Lys
NM_033071.3:c.26110C>A (SYNE1) NP_149062.1:p.Gln8704Lys
NM_182961.3:c.26254C>A (SYNE1) NP_892006.3:p.Gln8752Lys
XM_006715407.1:c.26401C>A (SYNE1) XP_006715470.1:p.Gln8801Lys
XM_006715408.1:c.26389C>A (SYNE1) XP_006715471.1:p.Gln8797Lys
XM_006715409.1:c.26380C>A (SYNE1) XP_006715472.1:p.Gln8794Lys
XM_006715410.1:c.26359C>A (SYNE1) XP_006715473.1:p.Gln8787Lys
XM_006715411.1:c.26350C>A (SYNE1) XP_006715474.1:p.Gln8784Lys
XM_006715412.1:c.26344C>A (SYNE1) XP_006715475.1:p.Gln8782Lys
XM_006715413.1:c.26332C>A (SYNE1) XP_006715476.1:p.Gln8778Lys
XM_006715414.1:c.26329C>A (SYNE1) XP_006715477.1:p.Gln8777Lys
XM_006715415.1:c.26290C>A (SYNE1) XP_006715478.1:p.Gln8764Lys
XM_006715416.1:c.26275C>A (SYNE1) XP_006715479.1:p.Gln8759Lys
XM_006715417.1:c.26260C>A (SYNE1) XP_006715480.1:p.Gln8754Lys
XM_006715420.1:c.26248C>A (SYNE1) XP_006715483.1:p.Gln8750Lys
XM_006715421.1:c.26245C>A (SYNE1) XP_006715484.1:p.Gln8749Lys
XM_006715422.1:c.26242C>A (SYNE1) XP_006715485.1:p.Gln8748Lys
XM_006715423.1:c.*65C>A (SYNE1) XP_006715486.1:n.*65C>A
XM_006715424.1:c.*65C>A (SYNE1) XP_006715487.1:n.*65C>A
XM_006715425.1:c.*65C>A (SYNE1) XP_006715488.1:n.*65C>A
XM_011535641.1:c.26398C>A (SYNE1) XP_011533943.1:p.Gln8800Lys
XM_011535642.1:c.26386C>A (SYNE1) XP_011533944.1:p.Gln8796Lys
XM_011535643.1:c.26236C>A (SYNE1) XP_011533945.1:p.Gln8746Lys
XM_011535644.1:c.24676C>A (SYNE1) XP_011533946.1:p.Gln8226Lys
XM_011535645.1:c.24169C>A (SYNE1) XP_011533947.1:p.Gln8057Lys
XM_011535647.1:c.19636C>A (SYNE1) XP_011533949.1:p.Gln6546Lys
NM_001328100.1:c.851-2690G>T (ESR1) NP_001315029.1:n.851-2690G>T
NM_001347701.1:c.*65C>A (SYNE1) NP_001334630.1:n.*65C>A
NM_001347702.1:c.2788C>A (SYNE1) NP_001334631.1:p.Gln930Lys
XM_006715408.2:c.26389C>A (SYNE1) XP_006715471.1:p.Gln8797Lys
XM_006715410.2:c.26359C>A (SYNE1) XP_006715473.1:p.Gln8787Lys
XM_006715412.2:c.26344C>A (SYNE1) XP_006715475.1:p.Gln8782Lys
XM_006715413.2:c.26332C>A (SYNE1) XP_006715476.1:p.Gln8778Lys
XM_006715415.2:c.26290C>A (SYNE1) XP_006715478.1:p.Gln8764Lys
XM_006715416.2:c.26275C>A (SYNE1) XP_006715479.1:p.Gln8759Lys
XM_006715417.2:c.26260C>A (SYNE1) XP_006715480.1:p.Gln8754Lys
XM_006715420.2:c.26248C>A (SYNE1) XP_006715483.1:p.Gln8750Lys
XM_006715421.2:c.26245C>A (SYNE1) XP_006715484.1:p.Gln8749Lys
XM_006715423.2:c.*65C>A (SYNE1) XP_006715486.1:n.*65C>A
XM_006715424.2:c.*65C>A (SYNE1) XP_006715487.1:n.*65C>A
XM_006715425.2:c.*65C>A (SYNE1) XP_006715488.1:n.*65C>A
XM_011535641.2:c.26398C>A (SYNE1) XP_011533943.1:p.Gln8800Lys
XM_011535642.2:c.26386C>A (SYNE1) XP_011533944.1:p.Gln8796Lys
XM_011535645.2:c.24169C>A (SYNE1) XP_011533947.1:p.Gln8057Lys
XM_017010608.1:c.26401C>A (SYNE1) XP_016866097.1:p.Gln8801Lys
XM_017010609.1:c.26401C>A (SYNE1) XP_016866098.1:p.Gln8801Lys
XM_017010610.1:c.26380C>A (SYNE1) XP_016866099.1:p.Gln8794Lys
XM_017010611.2:c.26374C>A (SYNE1) XP_016866100.1:p.Gln8792Lys
XM_017010612.1:c.26323C>A (SYNE1) XP_016866101.1:p.Gln8775Lys
XM_017010613.1:c.26287C>A (SYNE1) XP_016866102.1:p.Gln8763Lys
XM_017010614.1:c.26245C>A (SYNE1) XP_016866103.1:p.Gln8749Lys
XM_017010615.1:c.26134C>A (SYNE1) XP_016866104.1:p.Gln8712Lys
XM_017010616.1:c.*65C>A (SYNE1) XP_016866105.1:n.*65C>A
XM_017010617.1:c.*65C>A (SYNE1) XP_016866106.1:n.*65C>A
XM_017010618.1:c.*65C>A (SYNE1) XP_016866107.1:n.*65C>A
XM_017010619.1:c.24676C>A (SYNE1) XP_016866108.1:p.Gln8226Lys
NM_182961.4:c.26254C>A (SYNE1) MANE Select NP_892006.3:p.Gln8752Lys
NM_001328100.2:c.851-2690G>T (ESR1) NP_001315029.1:n.851-2690G>T
NM_001347701.2:c.*65C>A (SYNE1) NP_001334630.1:n.*65C>A
NM_001347702.2:c.2788C>A (SYNE1) MANE Plus Clinical NP_001334631.1:p.Gln930Lys
NM_033071.5:c.26110C>A (SYNE1) NP_149062.2:p.Gln8704Lys