Canonical Allele Identifier: CA366088419

Linked Data

dbSNP Id: rs1334766074

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122443G>A , CM000668.2:g.152122443G>A GRCh38
NC_000006.11:g.152443578G>A , CM000668.1:g.152443578G>A GRCh37
NC_000006.10:g.152485271G>A NCBI36
NG_012855.1:g.519957C>T
NG_008493.2:g.470753G>A
NG_012855.2:g.519957C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2921C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro974Leu
ENST00000367255.10:c.26387C>T (SYNE1) MANE Select ENSP00000356224.5:p.Pro8796Leu
ENST00000423061.6:c.26243C>T (SYNE1) ENSP00000396024.1:p.Pro8748Leu
ENST00000672154.1:c.1730C>T (SYNE1)
ENST00000672169.1:c.2105C>T (SYNE1)
ENST00000673173.1:c.1972C>T (SYNE1)
ENST00000673451.1:c.2237C>T (SYNE1) ENSP00000500189.1:n.2237C>T
ENST00000341594.9:c.25172C>T (SYNE1) ENSP00000341887.6:p.Pro8391Leu
ENST00000347037.9:n.3135C>T (SYNE1)
ENST00000354674.4:c.2921C>T (SYNE1) ENSP00000346701.4:p.Pro974Leu
ENST00000367251.7:c.5163C>T (SYNE1) ENSP00000356220.3:n.5163C>T
ENST00000367255.9:c.26387C>T (SYNE1) ENSP00000356224.5:p.Pro8796Leu
ENST00000367256.9:n.10079C>T (SYNE1)
ENST00000367257.8:c.4266C>T (SYNE1) ENSP00000356226.4:n.4266C>T
ENST00000409694.6:n.9971C>T (SYNE1)
ENST00000423061.5:c.26243C>T (SYNE1) ENSP00000396024.1:p.Pro8748Leu
ENST00000427531.6:c.851-2823G>A (ESR1) ENSP00000394721.2:n.851-2823G>A
ENST00000460912.6:n.3001C>T (SYNE1)
ENST00000478916.5:n.7024C>T (SYNE1)
ENST00000539504.5:c.2852C>T (SYNE1) ENSP00000441052.1:p.Pro951Leu
NM_033071.3:c.26243C>T (SYNE1) NP_149062.1:p.Pro8748Leu
NM_182961.3:c.26387C>T (SYNE1) NP_892006.3:p.Pro8796Leu
XM_006715407.1:c.26534C>T (SYNE1) XP_006715470.1:p.Pro8845Leu
XM_006715408.1:c.26522C>T (SYNE1) XP_006715471.1:p.Pro8841Leu
XM_006715409.1:c.26513C>T (SYNE1) XP_006715472.1:p.Pro8838Leu
XM_006715410.1:c.26492C>T (SYNE1) XP_006715473.1:p.Pro8831Leu
XM_006715411.1:c.26483C>T (SYNE1) XP_006715474.1:p.Pro8828Leu
XM_006715412.1:c.26477C>T (SYNE1) XP_006715475.1:p.Pro8826Leu
XM_006715413.1:c.26465C>T (SYNE1) XP_006715476.1:p.Pro8822Leu
XM_006715414.1:c.26462C>T (SYNE1) XP_006715477.1:p.Pro8821Leu
XM_006715415.1:c.26423C>T (SYNE1) XP_006715478.1:p.Pro8808Leu
XM_006715416.1:c.26408C>T (SYNE1) XP_006715479.1:p.Pro8803Leu
XM_006715417.1:c.26393C>T (SYNE1) XP_006715480.1:p.Pro8798Leu
XM_006715420.1:c.26381C>T (SYNE1) XP_006715483.1:p.Pro8794Leu
XM_006715421.1:c.26378C>T (SYNE1) XP_006715484.1:p.Pro8793Leu
XM_006715422.1:c.26375C>T (SYNE1) XP_006715485.1:p.Pro8792Leu
XM_006715423.1:c.*198C>T (SYNE1) XP_006715486.1:n.*198C>T
XM_006715424.1:c.*198C>T (SYNE1) XP_006715487.1:n.*198C>T
XM_006715425.1:c.*198C>T (SYNE1) XP_006715488.1:n.*198C>T
XM_011535641.1:c.26531C>T (SYNE1) XP_011533943.1:p.Pro8844Leu
XM_011535642.1:c.26519C>T (SYNE1) XP_011533944.1:p.Pro8840Leu
XM_011535643.1:c.26369C>T (SYNE1) XP_011533945.1:p.Pro8790Leu
XM_011535644.1:c.24809C>T (SYNE1) XP_011533946.1:p.Pro8270Leu
XM_011535645.1:c.24302C>T (SYNE1) XP_011533947.1:p.Pro8101Leu
XM_011535647.1:c.19769C>T (SYNE1) XP_011533949.1:p.Pro6590Leu
NM_001328100.1:c.851-2823G>A (ESR1) NP_001315029.1:n.851-2823G>A
NM_001347701.1:c.*198C>T (SYNE1) NP_001334630.1:n.*198C>T
NM_001347702.1:c.2921C>T (SYNE1) NP_001334631.1:p.Pro974Leu
XM_006715408.2:c.26522C>T (SYNE1) XP_006715471.1:p.Pro8841Leu
XM_006715410.2:c.26492C>T (SYNE1) XP_006715473.1:p.Pro8831Leu
XM_006715412.2:c.26477C>T (SYNE1) XP_006715475.1:p.Pro8826Leu
XM_006715413.2:c.26465C>T (SYNE1) XP_006715476.1:p.Pro8822Leu
XM_006715415.2:c.26423C>T (SYNE1) XP_006715478.1:p.Pro8808Leu
XM_006715416.2:c.26408C>T (SYNE1) XP_006715479.1:p.Pro8803Leu
XM_006715417.2:c.26393C>T (SYNE1) XP_006715480.1:p.Pro8798Leu
XM_006715420.2:c.26381C>T (SYNE1) XP_006715483.1:p.Pro8794Leu
XM_006715421.2:c.26378C>T (SYNE1) XP_006715484.1:p.Pro8793Leu
XM_006715423.2:c.*198C>T (SYNE1) XP_006715486.1:n.*198C>T
XM_006715424.2:c.*198C>T (SYNE1) XP_006715487.1:n.*198C>T
XM_006715425.2:c.*198C>T (SYNE1) XP_006715488.1:n.*198C>T
XM_011535641.2:c.26531C>T (SYNE1) XP_011533943.1:p.Pro8844Leu
XM_011535642.2:c.26519C>T (SYNE1) XP_011533944.1:p.Pro8840Leu
XM_011535645.2:c.24302C>T (SYNE1) XP_011533947.1:p.Pro8101Leu
XM_017010608.1:c.26534C>T (SYNE1) XP_016866097.1:p.Pro8845Leu
XM_017010609.1:c.26534C>T (SYNE1) XP_016866098.1:p.Pro8845Leu
XM_017010610.1:c.26513C>T (SYNE1) XP_016866099.1:p.Pro8838Leu
XM_017010611.2:c.26507C>T (SYNE1) XP_016866100.1:p.Pro8836Leu
XM_017010612.1:c.26456C>T (SYNE1) XP_016866101.1:p.Pro8819Leu
XM_017010613.1:c.26420C>T (SYNE1) XP_016866102.1:p.Pro8807Leu
XM_017010614.1:c.26378C>T (SYNE1) XP_016866103.1:p.Pro8793Leu
XM_017010615.1:c.26267C>T (SYNE1) XP_016866104.1:p.Pro8756Leu
XM_017010616.1:c.*198C>T (SYNE1) XP_016866105.1:n.*198C>T
XM_017010617.1:c.*198C>T (SYNE1) XP_016866106.1:n.*198C>T
XM_017010618.1:c.*198C>T (SYNE1) XP_016866107.1:n.*198C>T
XM_017010619.1:c.24809C>T (SYNE1) XP_016866108.1:p.Pro8270Leu
NM_182961.4:c.26387C>T (SYNE1) MANE Select NP_892006.3:p.Pro8796Leu
NM_001328100.2:c.851-2823G>A (ESR1) NP_001315029.1:n.851-2823G>A
NM_001347701.2:c.*198C>T (SYNE1) NP_001334630.1:n.*198C>T
NM_001347702.2:c.2921C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro974Leu
NM_033071.5:c.26243C>T (SYNE1) NP_149062.2:p.Pro8748Leu