Canonical Allele Identifier: CA366088678

Linked Data

dbSNP Id: rs1279617814

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122509C>A , CM000668.2:g.152122509C>A GRCh38
NC_000006.11:g.152443644C>A , CM000668.1:g.152443644C>A GRCh37
NC_000006.10:g.152485337C>A NCBI36
NG_012855.1:g.519891G>T
NG_008493.2:g.470819C>A
NG_012855.2:g.519891G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2855G>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Cys952Phe
ENST00000367255.10:c.26321G>T (SYNE1) MANE Select ENSP00000356224.5:p.Cys8774Phe
ENST00000423061.6:c.26177G>T (SYNE1) ENSP00000396024.1:p.Cys8726Phe
ENST00000672154.1:c.1664G>T (SYNE1)
ENST00000672169.1:c.2039G>T (SYNE1)
ENST00000673173.1:c.1906G>T (SYNE1)
ENST00000673451.1:c.2171G>T (SYNE1) ENSP00000500189.1:n.2171G>T
ENST00000341594.9:c.25106G>T (SYNE1) ENSP00000341887.6:p.Cys8369Phe
ENST00000347037.9:n.3069G>T (SYNE1)
ENST00000354674.4:c.2855G>T (SYNE1) ENSP00000346701.4:p.Cys952Phe
ENST00000367251.7:c.5097G>T (SYNE1) ENSP00000356220.3:n.5097G>T
ENST00000367255.9:c.26321G>T (SYNE1) ENSP00000356224.5:p.Cys8774Phe
ENST00000367256.9:n.10013G>T (SYNE1)
ENST00000367257.8:c.4200G>T (SYNE1) ENSP00000356226.4:n.4200G>T
ENST00000409694.6:n.9905G>T (SYNE1)
ENST00000423061.5:c.26177G>T (SYNE1) ENSP00000396024.1:p.Cys8726Phe
ENST00000427531.6:c.851-2757C>A (ESR1) ENSP00000394721.2:n.851-2757C>A
ENST00000460912.6:n.2935G>T (SYNE1)
ENST00000478916.5:n.6958G>T (SYNE1)
ENST00000539504.5:c.2786G>T (SYNE1) ENSP00000441052.1:p.Cys929Phe
NM_033071.3:c.26177G>T (SYNE1) NP_149062.1:p.Cys8726Phe
NM_182961.3:c.26321G>T (SYNE1) NP_892006.3:p.Cys8774Phe
XM_006715407.1:c.26468G>T (SYNE1) XP_006715470.1:p.Cys8823Phe
XM_006715408.1:c.26456G>T (SYNE1) XP_006715471.1:p.Cys8819Phe
XM_006715409.1:c.26447G>T (SYNE1) XP_006715472.1:p.Cys8816Phe
XM_006715410.1:c.26426G>T (SYNE1) XP_006715473.1:p.Cys8809Phe
XM_006715411.1:c.26417G>T (SYNE1) XP_006715474.1:p.Cys8806Phe
XM_006715412.1:c.26411G>T (SYNE1) XP_006715475.1:p.Cys8804Phe
XM_006715413.1:c.26399G>T (SYNE1) XP_006715476.1:p.Cys8800Phe
XM_006715414.1:c.26396G>T (SYNE1) XP_006715477.1:p.Cys8799Phe
XM_006715415.1:c.26357G>T (SYNE1) XP_006715478.1:p.Cys8786Phe
XM_006715416.1:c.26342G>T (SYNE1) XP_006715479.1:p.Cys8781Phe
XM_006715417.1:c.26327G>T (SYNE1) XP_006715480.1:p.Cys8776Phe
XM_006715420.1:c.26315G>T (SYNE1) XP_006715483.1:p.Cys8772Phe
XM_006715421.1:c.26312G>T (SYNE1) XP_006715484.1:p.Cys8771Phe
XM_006715422.1:c.26309G>T (SYNE1) XP_006715485.1:p.Cys8770Phe
XM_006715423.1:c.*132G>T (SYNE1) XP_006715486.1:n.*132G>T
XM_006715424.1:c.*132G>T (SYNE1) XP_006715487.1:n.*132G>T
XM_006715425.1:c.*132G>T (SYNE1) XP_006715488.1:n.*132G>T
XM_011535641.1:c.26465G>T (SYNE1) XP_011533943.1:p.Cys8822Phe
XM_011535642.1:c.26453G>T (SYNE1) XP_011533944.1:p.Cys8818Phe
XM_011535643.1:c.26303G>T (SYNE1) XP_011533945.1:p.Cys8768Phe
XM_011535644.1:c.24743G>T (SYNE1) XP_011533946.1:p.Cys8248Phe
XM_011535645.1:c.24236G>T (SYNE1) XP_011533947.1:p.Cys8079Phe
XM_011535647.1:c.19703G>T (SYNE1) XP_011533949.1:p.Cys6568Phe
NM_001328100.1:c.851-2757C>A (ESR1) NP_001315029.1:n.851-2757C>A
NM_001347701.1:c.*132G>T (SYNE1) NP_001334630.1:n.*132G>T
NM_001347702.1:c.2855G>T (SYNE1) NP_001334631.1:p.Cys952Phe
XM_006715408.2:c.26456G>T (SYNE1) XP_006715471.1:p.Cys8819Phe
XM_006715410.2:c.26426G>T (SYNE1) XP_006715473.1:p.Cys8809Phe
XM_006715412.2:c.26411G>T (SYNE1) XP_006715475.1:p.Cys8804Phe
XM_006715413.2:c.26399G>T (SYNE1) XP_006715476.1:p.Cys8800Phe
XM_006715415.2:c.26357G>T (SYNE1) XP_006715478.1:p.Cys8786Phe
XM_006715416.2:c.26342G>T (SYNE1) XP_006715479.1:p.Cys8781Phe
XM_006715417.2:c.26327G>T (SYNE1) XP_006715480.1:p.Cys8776Phe
XM_006715420.2:c.26315G>T (SYNE1) XP_006715483.1:p.Cys8772Phe
XM_006715421.2:c.26312G>T (SYNE1) XP_006715484.1:p.Cys8771Phe
XM_006715423.2:c.*132G>T (SYNE1) XP_006715486.1:n.*132G>T
XM_006715424.2:c.*132G>T (SYNE1) XP_006715487.1:n.*132G>T
XM_006715425.2:c.*132G>T (SYNE1) XP_006715488.1:n.*132G>T
XM_011535641.2:c.26465G>T (SYNE1) XP_011533943.1:p.Cys8822Phe
XM_011535642.2:c.26453G>T (SYNE1) XP_011533944.1:p.Cys8818Phe
XM_011535645.2:c.24236G>T (SYNE1) XP_011533947.1:p.Cys8079Phe
XM_017010608.1:c.26468G>T (SYNE1) XP_016866097.1:p.Cys8823Phe
XM_017010609.1:c.26468G>T (SYNE1) XP_016866098.1:p.Cys8823Phe
XM_017010610.1:c.26447G>T (SYNE1) XP_016866099.1:p.Cys8816Phe
XM_017010611.2:c.26441G>T (SYNE1) XP_016866100.1:p.Cys8814Phe
XM_017010612.1:c.26390G>T (SYNE1) XP_016866101.1:p.Cys8797Phe
XM_017010613.1:c.26354G>T (SYNE1) XP_016866102.1:p.Cys8785Phe
XM_017010614.1:c.26312G>T (SYNE1) XP_016866103.1:p.Cys8771Phe
XM_017010615.1:c.26201G>T (SYNE1) XP_016866104.1:p.Cys8734Phe
XM_017010616.1:c.*132G>T (SYNE1) XP_016866105.1:n.*132G>T
XM_017010617.1:c.*132G>T (SYNE1) XP_016866106.1:n.*132G>T
XM_017010618.1:c.*132G>T (SYNE1) XP_016866107.1:n.*132G>T
XM_017010619.1:c.24743G>T (SYNE1) XP_016866108.1:p.Cys8248Phe
NM_182961.4:c.26321G>T (SYNE1) MANE Select NP_892006.3:p.Cys8774Phe
NM_001328100.2:c.851-2757C>A (ESR1) NP_001315029.1:n.851-2757C>A
NM_001347701.2:c.*132G>T (SYNE1) NP_001334630.1:n.*132G>T
NM_001347702.2:c.2855G>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Cys952Phe
NM_033071.5:c.26177G>T (SYNE1) NP_149062.2:p.Cys8726Phe