Canonical Allele Identifier: CA366088431

Linked Data

dbSNP Id: rs766438191

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122449G>A , CM000668.2:g.152122449G>A GRCh38
NC_000006.11:g.152443584G>A , CM000668.1:g.152443584G>A GRCh37
NC_000006.10:g.152485277G>A NCBI36
NG_012855.1:g.519951C>T
NG_008493.2:g.470759G>A
NG_012855.2:g.519951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.2915C>T (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Pro972Leu
ENST00000367255.10:c.26381C>T (SYNE1) MANE Select ENSP00000356224.5:p.Pro8794Leu
ENST00000423061.6:c.26237C>T (SYNE1) ENSP00000396024.1:p.Pro8746Leu
ENST00000672154.1:c.1724C>T (SYNE1)
ENST00000672169.1:c.2099C>T (SYNE1)
ENST00000673173.1:c.1966C>T (SYNE1)
ENST00000673451.1:c.2231C>T (SYNE1) ENSP00000500189.1:n.2231C>T
ENST00000341594.9:c.25166C>T (SYNE1) ENSP00000341887.6:p.Pro8389Leu
ENST00000347037.9:n.3129C>T (SYNE1)
ENST00000354674.4:c.2915C>T (SYNE1) ENSP00000346701.4:p.Pro972Leu
ENST00000367251.7:c.5157C>T (SYNE1) ENSP00000356220.3:n.5157C>T
ENST00000367255.9:c.26381C>T (SYNE1) ENSP00000356224.5:p.Pro8794Leu
ENST00000367256.9:n.10073C>T (SYNE1)
ENST00000367257.8:c.4260C>T (SYNE1) ENSP00000356226.4:n.4260C>T
ENST00000409694.6:n.9965C>T (SYNE1)
ENST00000423061.5:c.26237C>T (SYNE1) ENSP00000396024.1:p.Pro8746Leu
ENST00000427531.6:c.851-2817G>A (ESR1) ENSP00000394721.2:n.851-2817G>A
ENST00000460912.6:n.2995C>T (SYNE1)
ENST00000478916.5:n.7018C>T (SYNE1)
ENST00000539504.5:c.2846C>T (SYNE1) ENSP00000441052.1:p.Pro949Leu
NM_033071.3:c.26237C>T (SYNE1) NP_149062.1:p.Pro8746Leu
NM_182961.3:c.26381C>T (SYNE1) NP_892006.3:p.Pro8794Leu
XM_006715407.1:c.26528C>T (SYNE1) XP_006715470.1:p.Pro8843Leu
XM_006715408.1:c.26516C>T (SYNE1) XP_006715471.1:p.Pro8839Leu
XM_006715409.1:c.26507C>T (SYNE1) XP_006715472.1:p.Pro8836Leu
XM_006715410.1:c.26486C>T (SYNE1) XP_006715473.1:p.Pro8829Leu
XM_006715411.1:c.26477C>T (SYNE1) XP_006715474.1:p.Pro8826Leu
XM_006715412.1:c.26471C>T (SYNE1) XP_006715475.1:p.Pro8824Leu
XM_006715413.1:c.26459C>T (SYNE1) XP_006715476.1:p.Pro8820Leu
XM_006715414.1:c.26456C>T (SYNE1) XP_006715477.1:p.Pro8819Leu
XM_006715415.1:c.26417C>T (SYNE1) XP_006715478.1:p.Pro8806Leu
XM_006715416.1:c.26402C>T (SYNE1) XP_006715479.1:p.Pro8801Leu
XM_006715417.1:c.26387C>T (SYNE1) XP_006715480.1:p.Pro8796Leu
XM_006715420.1:c.26375C>T (SYNE1) XP_006715483.1:p.Pro8792Leu
XM_006715421.1:c.26372C>T (SYNE1) XP_006715484.1:p.Pro8791Leu
XM_006715422.1:c.26369C>T (SYNE1) XP_006715485.1:p.Pro8790Leu
XM_006715423.1:c.*192C>T (SYNE1) XP_006715486.1:n.*192C>T
XM_006715424.1:c.*192C>T (SYNE1) XP_006715487.1:n.*192C>T
XM_006715425.1:c.*192C>T (SYNE1) XP_006715488.1:n.*192C>T
XM_011535641.1:c.26525C>T (SYNE1) XP_011533943.1:p.Pro8842Leu
XM_011535642.1:c.26513C>T (SYNE1) XP_011533944.1:p.Pro8838Leu
XM_011535643.1:c.26363C>T (SYNE1) XP_011533945.1:p.Pro8788Leu
XM_011535644.1:c.24803C>T (SYNE1) XP_011533946.1:p.Pro8268Leu
XM_011535645.1:c.24296C>T (SYNE1) XP_011533947.1:p.Pro8099Leu
XM_011535647.1:c.19763C>T (SYNE1) XP_011533949.1:p.Pro6588Leu
NM_001328100.1:c.851-2817G>A (ESR1) NP_001315029.1:n.851-2817G>A
NM_001347701.1:c.*192C>T (SYNE1) NP_001334630.1:n.*192C>T
NM_001347702.1:c.2915C>T (SYNE1) NP_001334631.1:p.Pro972Leu
XM_006715408.2:c.26516C>T (SYNE1) XP_006715471.1:p.Pro8839Leu
XM_006715410.2:c.26486C>T (SYNE1) XP_006715473.1:p.Pro8829Leu
XM_006715412.2:c.26471C>T (SYNE1) XP_006715475.1:p.Pro8824Leu
XM_006715413.2:c.26459C>T (SYNE1) XP_006715476.1:p.Pro8820Leu
XM_006715415.2:c.26417C>T (SYNE1) XP_006715478.1:p.Pro8806Leu
XM_006715416.2:c.26402C>T (SYNE1) XP_006715479.1:p.Pro8801Leu
XM_006715417.2:c.26387C>T (SYNE1) XP_006715480.1:p.Pro8796Leu
XM_006715420.2:c.26375C>T (SYNE1) XP_006715483.1:p.Pro8792Leu
XM_006715421.2:c.26372C>T (SYNE1) XP_006715484.1:p.Pro8791Leu
XM_006715423.2:c.*192C>T (SYNE1) XP_006715486.1:n.*192C>T
XM_006715424.2:c.*192C>T (SYNE1) XP_006715487.1:n.*192C>T
XM_006715425.2:c.*192C>T (SYNE1) XP_006715488.1:n.*192C>T
XM_011535641.2:c.26525C>T (SYNE1) XP_011533943.1:p.Pro8842Leu
XM_011535642.2:c.26513C>T (SYNE1) XP_011533944.1:p.Pro8838Leu
XM_011535645.2:c.24296C>T (SYNE1) XP_011533947.1:p.Pro8099Leu
XM_017010608.1:c.26528C>T (SYNE1) XP_016866097.1:p.Pro8843Leu
XM_017010609.1:c.26528C>T (SYNE1) XP_016866098.1:p.Pro8843Leu
XM_017010610.1:c.26507C>T (SYNE1) XP_016866099.1:p.Pro8836Leu
XM_017010611.2:c.26501C>T (SYNE1) XP_016866100.1:p.Pro8834Leu
XM_017010612.1:c.26450C>T (SYNE1) XP_016866101.1:p.Pro8817Leu
XM_017010613.1:c.26414C>T (SYNE1) XP_016866102.1:p.Pro8805Leu
XM_017010614.1:c.26372C>T (SYNE1) XP_016866103.1:p.Pro8791Leu
XM_017010615.1:c.26261C>T (SYNE1) XP_016866104.1:p.Pro8754Leu
XM_017010616.1:c.*192C>T (SYNE1) XP_016866105.1:n.*192C>T
XM_017010617.1:c.*192C>T (SYNE1) XP_016866106.1:n.*192C>T
XM_017010618.1:c.*192C>T (SYNE1) XP_016866107.1:n.*192C>T
XM_017010619.1:c.24803C>T (SYNE1) XP_016866108.1:p.Pro8268Leu
NM_182961.4:c.26381C>T (SYNE1) MANE Select NP_892006.3:p.Pro8794Leu
NM_001328100.2:c.851-2817G>A (ESR1) NP_001315029.1:n.851-2817G>A
NM_001347701.2:c.*192C>T (SYNE1) NP_001334630.1:n.*192C>T
NM_001347702.2:c.2915C>T (SYNE1) MANE Plus Clinical NP_001334631.1:p.Pro972Leu
NM_033071.5:c.26237C>T (SYNE1) NP_149062.2:p.Pro8746Leu