Canonical Allele Identifier: CA150163122
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152136637T>G , CM000668.2:g.152136637T>G GRCh38
NC_000006.11:g.152457772T>G , CM000668.1:g.152457772T>G GRCh37
NC_000006.10:g.152499465T>G NCBI36
NG_012855.1:g.505763A>C
NG_012855.2:g.505763A>C

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.25640A>C MANE Select NP_892006.3:p.Asp8547Ala
ENST00000367255.10:c.25640A>C MANE Select ENSP00000356224.5:p.Asp8547Ala
NM_001347702.2:c.2174A>C MANE Plus Clinical NP_001334631.1:p.Asp725Ala
ENST00000354674.5:c.2174A>C MANE Plus Clinical ENSP00000346701.4:p.Asp725Ala
NM_001347701.1:c.2246A>C NP_001334630.1:p.Asp749Ala
NM_001347701.2:c.2246A>C NP_001334630.1:p.Asp749Ala
NM_001347702.1:c.2174A>C NP_001334631.1:p.Asp725Ala
NM_033071.3:c.25496A>C NP_149062.1:p.Asp8499Ala
NM_033071.5:c.25496A>C NP_149062.2:p.Asp8499Ala
NM_182961.3:c.25640A>C NP_892006.3:p.Asp8547Ala
ENST00000341594.9:c.24425A>C ENSP00000341887.6:p.Asp8142Ala
ENST00000347037.9:n.2388A>C
ENST00000354674.4:c.2174A>C ENSP00000346701.4:p.Asp725Ala
ENST00000367251.7:c.4475A>C ENSP00000356220.3:p.Asp1492Ala
ENST00000367255.9:c.25640A>C ENSP00000356224.5:p.Asp8547Ala
ENST00000367256.9:n.9332A>C
ENST00000367257.8:c.3578A>C ENSP00000356226.4:p.Asp1193Ala
ENST00000409694.6:n.9224A>C
ENST00000423061.5:c.25496A>C ENSP00000396024.1:p.Asp8499Ala
ENST00000423061.6:c.25496A>C ENSP00000396024.1:p.Asp8499Ala
ENST00000460912.6:n.2254A>C
ENST00000478916.5:n.4662A>C
ENST00000536990.5:n.2477A>C
ENST00000539504.5:c.2105A>C ENSP00000441052.1:p.Asp702Ala
ENST00000672154.1:c.1042A>C
ENST00000672169.1:c.1375A>C
ENST00000673173.1:c.1284A>C
ENST00000673451.1:c.1412A>C ENSP00000500189.1:p.Asp471Ala
XM_006715407.1:c.25745A>C XP_006715470.1:p.Asp8582Ala
XM_006715408.1:c.25733A>C XP_006715471.1:p.Asp8578Ala
XM_006715408.2:c.25733A>C XP_006715471.1:p.Asp8578Ala
XM_006715409.1:c.25724A>C XP_006715472.1:p.Asp8575Ala
XM_006715410.1:c.25745A>C XP_006715473.1:p.Asp8582Ala
XM_006715410.2:c.25745A>C XP_006715473.1:p.Asp8582Ala
XM_006715411.1:c.25694A>C XP_006715474.1:p.Asp8565Ala
XM_006715412.1:c.25730A>C XP_006715475.1:p.Asp8577Ala
XM_006715412.2:c.25730A>C XP_006715475.1:p.Asp8577Ala
XM_006715413.1:c.25676A>C XP_006715476.1:p.Asp8559Ala
XM_006715413.2:c.25676A>C XP_006715476.1:p.Asp8559Ala
XM_006715414.1:c.25673A>C XP_006715477.1:p.Asp8558Ala
XM_006715415.1:c.25676A>C XP_006715478.1:p.Asp8559Ala
XM_006715415.2:c.25676A>C XP_006715478.1:p.Asp8559Ala
XM_006715416.1:c.25661A>C XP_006715479.1:p.Asp8554Ala
XM_006715416.2:c.25661A>C XP_006715479.1:p.Asp8554Ala
XM_006715417.1:c.25604A>C XP_006715480.1:p.Asp8535Ala
XM_006715417.2:c.25604A>C XP_006715480.1:p.Asp8535Ala
XM_006715420.1:c.25592A>C XP_006715483.1:p.Asp8531Ala
XM_006715420.2:c.25592A>C XP_006715483.1:p.Asp8531Ala
XM_006715421.1:c.25589A>C XP_006715484.1:p.Asp8530Ala
XM_006715421.2:c.25589A>C XP_006715484.1:p.Asp8530Ala
XM_006715422.1:c.25586A>C XP_006715485.1:p.Asp8529Ala
XM_006715423.1:c.25745A>C XP_006715486.1:p.Asp8582Ala
XM_006715423.2:c.25745A>C XP_006715486.1:p.Asp8582Ala
XM_006715424.1:c.25745A>C XP_006715487.1:p.Asp8582Ala
XM_006715424.2:c.25745A>C XP_006715487.1:p.Asp8582Ala
XM_006715425.1:c.25676A>C XP_006715488.1:p.Asp8559Ala
XM_006715425.2:c.25676A>C XP_006715488.1:p.Asp8559Ala
XM_011535641.1:c.25742A>C XP_011533943.1:p.Asp8581Ala
XM_011535641.2:c.25742A>C XP_011533943.1:p.Asp8581Ala
XM_011535642.1:c.25730A>C XP_011533944.1:p.Asp8577Ala
XM_011535642.2:c.25730A>C XP_011533944.1:p.Asp8577Ala
XM_011535643.1:c.25580A>C XP_011533945.1:p.Asp8527Ala
XM_011535644.1:c.24020A>C XP_011533946.1:p.Asp8007Ala
XM_011535645.1:c.23513A>C XP_011533947.1:p.Asp7838Ala
XM_011535645.2:c.23513A>C XP_011533947.1:p.Asp7838Ala
XM_011535647.1:c.18980A>C XP_011533949.1:p.Asp6327Ala
XM_017010608.1:c.25745A>C XP_016866097.1:p.Asp8582Ala
XM_017010609.1:c.25745A>C XP_016866098.1:p.Asp8582Ala
XM_017010610.1:c.25724A>C XP_016866099.1:p.Asp8575Ala
XM_017010611.2:c.25718A>C XP_016866100.1:p.Asp8573Ala
XM_017010612.1:c.25667A>C XP_016866101.1:p.Asp8556Ala
XM_017010613.1:c.25673A>C XP_016866102.1:p.Asp8558Ala
XM_017010614.1:c.25589A>C XP_016866103.1:p.Asp8530Ala
XM_017010615.1:c.25520A>C XP_016866104.1:p.Asp8507Ala
XM_017010616.1:c.25676A>C XP_016866105.1:p.Asp8559Ala
XM_017010617.1:c.25673A>C XP_016866106.1:p.Asp8558Ala
XM_017010618.1:c.25661A>C XP_016866107.1:p.Asp8554Ala
XM_017010619.1:c.24020A>C XP_016866108.1:p.Asp8007Ala