Canonical Allele Identifier: CA4053092
Community Standard Title: NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152148298G>A , CM000668.2:g.152148298G>A GRCh38
NC_000006.11:g.152469433G>A , CM000668.1:g.152469433G>A GRCh37
NC_000006.10:g.152511126G>A NCBI36
NG_012855.1:g.494102C>T
NG_012855.2:g.494102C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.24723C>T MANE Select NP_892006.3:p.His8241=
ENST00000367255.10:c.24723C>T MANE Select ENSP00000356224.5:p.His8241=
NM_001347702.2:c.1188C>T MANE Plus Clinical NP_001334631.1:p.His396=
ENST00000354674.5:c.1188C>T MANE Plus Clinical ENSP00000346701.4:p.His396=
NM_001347701.1:c.1329C>T NP_001334630.1:p.His443=
NM_001347701.2:c.1329C>T NP_001334630.1:p.His443=
NM_001347702.1:c.1188C>T NP_001334631.1:p.His396=
NM_033071.3:c.24510C>T NP_149062.1:p.His8170=
NM_033071.5:c.24510C>T NP_149062.2:p.His8170=
NM_182961.3:c.24723C>T NP_892006.3:p.His8241=
ENST00000341594.9:c.23508C>T ENSP00000341887.6:p.His7836=
ENST00000347037.9:n.1402C>T
ENST00000354674.4:c.1188C>T ENSP00000346701.4:p.His396=
ENST00000367251.7:c.3489C>T ENSP00000356220.3:p.His1163=
ENST00000367255.9:c.24723C>T ENSP00000356224.5:p.His8241=
ENST00000367256.9:n.8415C>T
ENST00000367257.8:c.2661C>T ENSP00000356226.4:p.His887=
ENST00000409694.6:n.8307C>T
ENST00000423061.5:c.24510C>T ENSP00000396024.1:p.His8170=
ENST00000423061.6:c.24510C>T ENSP00000396024.1:p.His8170=
ENST00000460912.6:n.1268C>T
ENST00000472563.2:n.111C>T
ENST00000536990.5:n.1560C>T
ENST00000539504.5:c.1188C>T ENSP00000441052.1:p.His396=
ENST00000672154.1:c.159-34C>T
ENST00000672169.1:c.458C>T
ENST00000673173.1:c.637C>T
ENST00000673451.1:c.495C>T ENSP00000500189.1:p.His165=
XM_006715407.1:c.24759C>T XP_006715470.1:p.His8253=
XM_006715408.1:c.24747C>T XP_006715471.1:p.His8249=
XM_006715408.2:c.24747C>T XP_006715471.1:p.His8249=
XM_006715409.1:c.24738C>T XP_006715472.1:p.His8246=
XM_006715410.1:c.24759C>T XP_006715473.1:p.His8253=
XM_006715410.2:c.24759C>T XP_006715473.1:p.His8253=
XM_006715411.1:c.24708C>T XP_006715474.1:p.His8236=
XM_006715412.1:c.24744C>T XP_006715475.1:p.His8248=
XM_006715412.2:c.24744C>T XP_006715475.1:p.His8248=
XM_006715413.1:c.24759C>T XP_006715476.1:p.His8253=
XM_006715413.2:c.24759C>T XP_006715476.1:p.His8253=
XM_006715414.1:c.24687C>T XP_006715477.1:p.His8229=
XM_006715415.1:c.24759C>T XP_006715478.1:p.His8253=
XM_006715415.2:c.24759C>T XP_006715478.1:p.His8253=
XM_006715416.1:c.24744C>T XP_006715479.1:p.His8248=
XM_006715416.2:c.24744C>T XP_006715479.1:p.His8248=
XM_006715417.1:c.24618C>T XP_006715480.1:p.His8206=
XM_006715417.2:c.24618C>T XP_006715480.1:p.His8206=
XM_006715420.1:c.24606C>T XP_006715483.1:p.His8202=
XM_006715420.2:c.24606C>T XP_006715483.1:p.His8202=
XM_006715421.1:c.24603C>T XP_006715484.1:p.His8201=
XM_006715421.2:c.24603C>T XP_006715484.1:p.His8201=
XM_006715422.1:c.24600C>T XP_006715485.1:p.His8200=
XM_006715423.1:c.24759C>T XP_006715486.1:p.His8253=
XM_006715423.2:c.24759C>T XP_006715486.1:p.His8253=
XM_006715424.1:c.24759C>T XP_006715487.1:p.His8253=
XM_006715424.2:c.24759C>T XP_006715487.1:p.His8253=
XM_006715425.1:c.24759C>T XP_006715488.1:p.His8253=
XM_006715425.2:c.24759C>T XP_006715488.1:p.His8253=
XM_011535641.1:c.24756C>T XP_011533943.1:p.His8252=
XM_011535641.2:c.24756C>T XP_011533943.1:p.His8252=
XM_011535642.1:c.24744C>T XP_011533944.1:p.His8248=
XM_011535642.2:c.24744C>T XP_011533944.1:p.His8248=
XM_011535643.1:c.24594C>T XP_011533945.1:p.His8198=
XM_011535644.1:c.23034C>T XP_011533946.1:p.His7678=
XM_011535645.1:c.22527C>T XP_011533947.1:p.His7509=
XM_011535645.2:c.22527C>T XP_011533947.1:p.His7509=
XM_011535647.1:c.17994C>T XP_011533949.1:p.His5998=
XM_017010608.1:c.24759C>T XP_016866097.1:p.His8253=
XM_017010609.1:c.24759C>T XP_016866098.1:p.His8253=
XM_017010610.1:c.24738C>T XP_016866099.1:p.His8246=
XM_017010611.2:c.24732C>T XP_016866100.1:p.His8244=
XM_017010612.1:c.24681C>T XP_016866101.1:p.His8227=
XM_017010613.1:c.24756C>T XP_016866102.1:p.His8252=
XM_017010614.1:c.24603C>T XP_016866103.1:p.His8201=
XM_017010615.1:c.24603C>T XP_016866104.1:p.His8201=
XM_017010616.1:c.24759C>T XP_016866105.1:p.His8253=
XM_017010617.1:c.24756C>T XP_016866106.1:p.His8252=
XM_017010618.1:c.24744C>T XP_016866107.1:p.His8248=
XM_017010619.1:c.23034C>T XP_016866108.1:p.His7678=