Canonical Allele Identifier: CA366088426

Linked Data

ClinVar Variation Id: 2436544
ClinVar RCV Id: RCV003138880

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122446G>A , CM000668.2:g.152122446G>A GRCh38
NC_000006.11:g.152443581G>A , CM000668.1:g.152443581G>A GRCh37
NC_000006.10:g.152485274G>A NCBI36
NG_012855.1:g.519954C>T
NG_008493.2:g.470756G>A
NG_012855.2:g.519954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2918C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro973Leu
ENST00000367255.10:c.26384C>T (SYNE1) MANE Select ENSP00000356224.5:p.Pro8795Leu
ENST00000423061.6:c.26240C>T (SYNE1) ENSP00000396024.1:p.Pro8747Leu
ENST00000672154.1:c.1727C>T (SYNE1)
ENST00000672169.1:c.2102C>T (SYNE1)
ENST00000673173.1:c.1969C>T (SYNE1)
ENST00000673451.1:c.2234C>T (SYNE1) ENSP00000500189.1:n.2234C>T
ENST00000341594.9:c.25169C>T (SYNE1) ENSP00000341887.6:p.Pro8390Leu
ENST00000347037.9:n.3132C>T (SYNE1)
ENST00000354674.4:c.2918C>T (SYNE1) ENSP00000346701.4:p.Pro973Leu
ENST00000367251.7:c.5160C>T (SYNE1) ENSP00000356220.3:n.5160C>T
ENST00000367255.9:c.26384C>T (SYNE1) ENSP00000356224.5:p.Pro8795Leu
ENST00000367256.9:n.10076C>T (SYNE1)
ENST00000367257.8:c.4263C>T (SYNE1) ENSP00000356226.4:n.4263C>T
ENST00000409694.6:n.9968C>T (SYNE1)
ENST00000423061.5:c.26240C>T (SYNE1) ENSP00000396024.1:p.Pro8747Leu
ENST00000427531.6:c.851-2820G>A (ESR1) ENSP00000394721.2:n.851-2820G>A
ENST00000460912.6:n.2998C>T (SYNE1)
ENST00000478916.5:n.7021C>T (SYNE1)
ENST00000539504.5:c.2849C>T (SYNE1) ENSP00000441052.1:p.Pro950Leu
NM_033071.3:c.26240C>T (SYNE1) NP_149062.1:p.Pro8747Leu
NM_182961.3:c.26384C>T (SYNE1) NP_892006.3:p.Pro8795Leu
XM_006715407.1:c.26531C>T (SYNE1) XP_006715470.1:p.Pro8844Leu
XM_006715408.1:c.26519C>T (SYNE1) XP_006715471.1:p.Pro8840Leu
XM_006715409.1:c.26510C>T (SYNE1) XP_006715472.1:p.Pro8837Leu
XM_006715410.1:c.26489C>T (SYNE1) XP_006715473.1:p.Pro8830Leu
XM_006715411.1:c.26480C>T (SYNE1) XP_006715474.1:p.Pro8827Leu
XM_006715412.1:c.26474C>T (SYNE1) XP_006715475.1:p.Pro8825Leu
XM_006715413.1:c.26462C>T (SYNE1) XP_006715476.1:p.Pro8821Leu
XM_006715414.1:c.26459C>T (SYNE1) XP_006715477.1:p.Pro8820Leu
XM_006715415.1:c.26420C>T (SYNE1) XP_006715478.1:p.Pro8807Leu
XM_006715416.1:c.26405C>T (SYNE1) XP_006715479.1:p.Pro8802Leu
XM_006715417.1:c.26390C>T (SYNE1) XP_006715480.1:p.Pro8797Leu
XM_006715420.1:c.26378C>T (SYNE1) XP_006715483.1:p.Pro8793Leu
XM_006715421.1:c.26375C>T (SYNE1) XP_006715484.1:p.Pro8792Leu
XM_006715422.1:c.26372C>T (SYNE1) XP_006715485.1:p.Pro8791Leu
XM_006715423.1:c.*195C>T (SYNE1) XP_006715486.1:n.*195C>T
XM_006715424.1:c.*195C>T (SYNE1) XP_006715487.1:n.*195C>T
XM_006715425.1:c.*195C>T (SYNE1) XP_006715488.1:n.*195C>T
XM_011535641.1:c.26528C>T (SYNE1) XP_011533943.1:p.Pro8843Leu
XM_011535642.1:c.26516C>T (SYNE1) XP_011533944.1:p.Pro8839Leu
XM_011535643.1:c.26366C>T (SYNE1) XP_011533945.1:p.Pro8789Leu
XM_011535644.1:c.24806C>T (SYNE1) XP_011533946.1:p.Pro8269Leu
XM_011535645.1:c.24299C>T (SYNE1) XP_011533947.1:p.Pro8100Leu
XM_011535647.1:c.19766C>T (SYNE1) XP_011533949.1:p.Pro6589Leu
NM_001328100.1:c.851-2820G>A (ESR1) NP_001315029.1:n.851-2820G>A
NM_001347701.1:c.*195C>T (SYNE1) NP_001334630.1:n.*195C>T
NM_001347702.1:c.2918C>T (SYNE1) NP_001334631.1:p.Pro973Leu
XM_006715408.2:c.26519C>T (SYNE1) XP_006715471.1:p.Pro8840Leu
XM_006715410.2:c.26489C>T (SYNE1) XP_006715473.1:p.Pro8830Leu
XM_006715412.2:c.26474C>T (SYNE1) XP_006715475.1:p.Pro8825Leu
XM_006715413.2:c.26462C>T (SYNE1) XP_006715476.1:p.Pro8821Leu
XM_006715415.2:c.26420C>T (SYNE1) XP_006715478.1:p.Pro8807Leu
XM_006715416.2:c.26405C>T (SYNE1) XP_006715479.1:p.Pro8802Leu
XM_006715417.2:c.26390C>T (SYNE1) XP_006715480.1:p.Pro8797Leu
XM_006715420.2:c.26378C>T (SYNE1) XP_006715483.1:p.Pro8793Leu
XM_006715421.2:c.26375C>T (SYNE1) XP_006715484.1:p.Pro8792Leu
XM_006715423.2:c.*195C>T (SYNE1) XP_006715486.1:n.*195C>T
XM_006715424.2:c.*195C>T (SYNE1) XP_006715487.1:n.*195C>T
XM_006715425.2:c.*195C>T (SYNE1) XP_006715488.1:n.*195C>T
XM_011535641.2:c.26528C>T (SYNE1) XP_011533943.1:p.Pro8843Leu
XM_011535642.2:c.26516C>T (SYNE1) XP_011533944.1:p.Pro8839Leu
XM_011535645.2:c.24299C>T (SYNE1) XP_011533947.1:p.Pro8100Leu
XM_017010608.1:c.26531C>T (SYNE1) XP_016866097.1:p.Pro8844Leu
XM_017010609.1:c.26531C>T (SYNE1) XP_016866098.1:p.Pro8844Leu
XM_017010610.1:c.26510C>T (SYNE1) XP_016866099.1:p.Pro8837Leu
XM_017010611.2:c.26504C>T (SYNE1) XP_016866100.1:p.Pro8835Leu
XM_017010612.1:c.26453C>T (SYNE1) XP_016866101.1:p.Pro8818Leu
XM_017010613.1:c.26417C>T (SYNE1) XP_016866102.1:p.Pro8806Leu
XM_017010614.1:c.26375C>T (SYNE1) XP_016866103.1:p.Pro8792Leu
XM_017010615.1:c.26264C>T (SYNE1) XP_016866104.1:p.Pro8755Leu
XM_017010616.1:c.*195C>T (SYNE1) XP_016866105.1:n.*195C>T
XM_017010617.1:c.*195C>T (SYNE1) XP_016866106.1:n.*195C>T
XM_017010618.1:c.*195C>T (SYNE1) XP_016866107.1:n.*195C>T
XM_017010619.1:c.24806C>T (SYNE1) XP_016866108.1:p.Pro8269Leu
NM_182961.4:c.26384C>T (SYNE1) MANE Select NP_892006.3:p.Pro8795Leu
NM_001328100.2:c.851-2820G>A (ESR1) NP_001315029.1:n.851-2820G>A
NM_001347701.2:c.*195C>T (SYNE1) NP_001334630.1:n.*195C>T
NM_001347702.2:c.2918C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro973Leu
NM_033071.5:c.26240C>T (SYNE1) NP_149062.2:p.Pro8747Leu