Canonical Allele Identifier: CA366089235

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122657C>G , CM000668.2:g.152122657C>G GRCh38
NC_000006.11:g.152443792C>G , CM000668.1:g.152443792C>G GRCh37
NC_000006.10:g.152485485C>G NCBI36
NG_012855.1:g.519743G>C
NG_008493.2:g.470967C>G
NG_012855.2:g.519743G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2707G>C (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Asp903His
ENST00000367255.10:c.26173G>C (SYNE1) MANE Select ENSP00000356224.5:p.Asp8725His
ENST00000423061.6:c.26029G>C (SYNE1) ENSP00000396024.1:p.Asp8677His
ENST00000672154.1:c.1516G>C (SYNE1)
ENST00000672169.1:c.1891G>C (SYNE1)
ENST00000673173.1:c.1758G>C (SYNE1)
ENST00000673451.1:c.2023G>C (SYNE1) ENSP00000500189.1:n.2023G>C
ENST00000341594.9:c.24958G>C (SYNE1) ENSP00000341887.6:p.Asp8320His
ENST00000347037.9:n.2921G>C (SYNE1)
ENST00000354674.4:c.2707G>C (SYNE1) ENSP00000346701.4:p.Asp903His
ENST00000367251.7:c.4949G>C (SYNE1) ENSP00000356220.3:p.Arg1650Pro
ENST00000367255.9:c.26173G>C (SYNE1) ENSP00000356224.5:p.Asp8725His
ENST00000367256.9:n.9865G>C (SYNE1)
ENST00000367257.8:c.4052G>C (SYNE1) ENSP00000356226.4:p.Arg1351Pro
ENST00000409694.6:n.9757G>C (SYNE1)
ENST00000423061.5:c.26029G>C (SYNE1) ENSP00000396024.1:p.Asp8677His
ENST00000427531.6:c.851-2609C>G (ESR1) ENSP00000394721.2:n.851-2609C>G
ENST00000460912.6:n.2787G>C (SYNE1)
ENST00000478916.5:n.6810G>C (SYNE1)
ENST00000536990.5:n.2951G>C (SYNE1)
ENST00000539504.5:c.2638G>C (SYNE1) ENSP00000441052.1:p.Asp880His
NM_033071.3:c.26029G>C (SYNE1) NP_149062.1:p.Asp8677His
NM_182961.3:c.26173G>C (SYNE1) NP_892006.3:p.Asp8725His
XM_006715407.1:c.26320G>C (SYNE1) XP_006715470.1:p.Asp8774His
XM_006715408.1:c.26308G>C (SYNE1) XP_006715471.1:p.Asp8770His
XM_006715409.1:c.26299G>C (SYNE1) XP_006715472.1:p.Asp8767His
XM_006715410.1:c.26278G>C (SYNE1) XP_006715473.1:p.Asp8760His
XM_006715411.1:c.26269G>C (SYNE1) XP_006715474.1:p.Asp8757His
XM_006715412.1:c.26263G>C (SYNE1) XP_006715475.1:p.Asp8755His
XM_006715413.1:c.26251G>C (SYNE1) XP_006715476.1:p.Asp8751His
XM_006715414.1:c.26248G>C (SYNE1) XP_006715477.1:p.Asp8750His
XM_006715415.1:c.26209G>C (SYNE1) XP_006715478.1:p.Asp8737His
XM_006715416.1:c.26194G>C (SYNE1) XP_006715479.1:p.Asp8732His
XM_006715417.1:c.26179G>C (SYNE1) XP_006715480.1:p.Asp8727His
XM_006715420.1:c.26167G>C (SYNE1) XP_006715483.1:p.Asp8723His
XM_006715421.1:c.26164G>C (SYNE1) XP_006715484.1:p.Asp8722His
XM_006715422.1:c.26161G>C (SYNE1) XP_006715485.1:p.Asp8721His
XM_006715423.1:c.26261G>C (SYNE1) XP_006715486.1:p.Arg8754Pro
XM_006715424.1:c.26219G>C (SYNE1) XP_006715487.1:p.Arg8740Pro
XM_006715425.1:c.26150G>C (SYNE1) XP_006715488.1:p.Arg8717Pro
XM_011535641.1:c.26317G>C (SYNE1) XP_011533943.1:p.Asp8773His
XM_011535642.1:c.26305G>C (SYNE1) XP_011533944.1:p.Asp8769His
XM_011535643.1:c.26155G>C (SYNE1) XP_011533945.1:p.Asp8719His
XM_011535644.1:c.24595G>C (SYNE1) XP_011533946.1:p.Asp8199His
XM_011535645.1:c.24088G>C (SYNE1) XP_011533947.1:p.Asp8030His
XM_011535647.1:c.19555G>C (SYNE1) XP_011533949.1:p.Asp6519His
NM_001328100.1:c.851-2609C>G (ESR1) NP_001315029.1:n.851-2609C>G
NM_001347701.1:c.2720G>C (SYNE1) NP_001334630.1:p.Arg907Pro
NM_001347702.1:c.2707G>C (SYNE1) NP_001334631.1:p.Asp903His
XM_006715408.2:c.26308G>C (SYNE1) XP_006715471.1:p.Asp8770His
XM_006715410.2:c.26278G>C (SYNE1) XP_006715473.1:p.Asp8760His
XM_006715412.2:c.26263G>C (SYNE1) XP_006715475.1:p.Asp8755His
XM_006715413.2:c.26251G>C (SYNE1) XP_006715476.1:p.Asp8751His
XM_006715415.2:c.26209G>C (SYNE1) XP_006715478.1:p.Asp8737His
XM_006715416.2:c.26194G>C (SYNE1) XP_006715479.1:p.Asp8732His
XM_006715417.2:c.26179G>C (SYNE1) XP_006715480.1:p.Asp8727His
XM_006715420.2:c.26167G>C (SYNE1) XP_006715483.1:p.Asp8723His
XM_006715421.2:c.26164G>C (SYNE1) XP_006715484.1:p.Asp8722His
XM_006715423.2:c.26261G>C (SYNE1) XP_006715486.1:p.Arg8754Pro
XM_006715424.2:c.26219G>C (SYNE1) XP_006715487.1:p.Arg8740Pro
XM_006715425.2:c.26150G>C (SYNE1) XP_006715488.1:p.Arg8717Pro
XM_011535641.2:c.26317G>C (SYNE1) XP_011533943.1:p.Asp8773His
XM_011535642.2:c.26305G>C (SYNE1) XP_011533944.1:p.Asp8769His
XM_011535645.2:c.24088G>C (SYNE1) XP_011533947.1:p.Asp8030His
XM_017010608.1:c.26320G>C (SYNE1) XP_016866097.1:p.Asp8774His
XM_017010609.1:c.26320G>C (SYNE1) XP_016866098.1:p.Asp8774His
XM_017010610.1:c.26299G>C (SYNE1) XP_016866099.1:p.Asp8767His
XM_017010611.2:c.26293G>C (SYNE1) XP_016866100.1:p.Asp8765His
XM_017010612.1:c.26242G>C (SYNE1) XP_016866101.1:p.Asp8748His
XM_017010613.1:c.26206G>C (SYNE1) XP_016866102.1:p.Asp8736His
XM_017010614.1:c.26164G>C (SYNE1) XP_016866103.1:p.Asp8722His
XM_017010615.1:c.26053G>C (SYNE1) XP_016866104.1:p.Asp8685His
XM_017010616.1:c.26192G>C (SYNE1) XP_016866105.1:p.Arg8731Pro
XM_017010617.1:c.26147G>C (SYNE1) XP_016866106.1:p.Arg8716Pro
XM_017010618.1:c.26135G>C (SYNE1) XP_016866107.1:p.Arg8712Pro
XM_017010619.1:c.24595G>C (SYNE1) XP_016866108.1:p.Asp8199His
NM_182961.4:c.26173G>C (SYNE1) MANE Select NP_892006.3:p.Asp8725His
NM_001328100.2:c.851-2609C>G (ESR1) NP_001315029.1:n.851-2609C>G
NM_001347701.2:c.2720G>C (SYNE1) NP_001334630.1:p.Arg907Pro
NM_001347702.2:c.2707G>C (SYNE1) MANE Plus Clinical NP_001334631.1:p.Asp903His
NM_033071.5:c.26029G>C (SYNE1) NP_149062.2:p.Asp8677His