Canonical Allele Identifier: CA452747136

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462441A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141306A>G , CM000668.2:g.152141306A>G	GRCh38
NC_000006.11:g.152462441A>G , CM000668.1:g.152462441A>G	GRCh37
NC_000006.10:g.152504134A>G	NCBI36
NG_012855.1:g.501094T>C
NG_012855.2:g.501094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1677T>C MANE Plus Clinical	ENSP00000346701.4:p.Ser559=
ENST00000367255.10:c.25143T>C MANE Select	ENSP00000356224.5:p.Ser8381=
ENST00000423061.6:c.24999T>C	ENSP00000396024.1:p.Ser8333=
ENST00000672154.1:c.545T>C
ENST00000672169.1:c.878T>C
ENST00000673173.1:c.891-1145T>C
ENST00000673451.1:c.915T>C	ENSP00000500189.1:p.Ser305=
ENST00000341594.9:c.23928T>C	ENSP00000341887.6:p.Ser7976=
ENST00000347037.9:n.1891T>C
ENST00000354674.4:c.1677T>C	ENSP00000346701.4:p.Ser559=
ENST00000367251.7:c.3978T>C	ENSP00000356220.3:p.Ser1326=
ENST00000367255.9:c.25143T>C	ENSP00000356224.5:p.Ser8381=
ENST00000367256.9:n.8835T>C
ENST00000367257.8:c.3081T>C	ENSP00000356226.4:p.Ser1027=
ENST00000409694.6:n.8727T>C
ENST00000423061.5:c.24999T>C	ENSP00000396024.1:p.Ser8333=
ENST00000460912.6:n.1757T>C
ENST00000478916.5:n.4165T>C
ENST00000536990.5:n.1980T>C
ENST00000539504.5:c.1608T>C	ENSP00000441052.1:p.Ser536=
NM_033071.3:c.24999T>C	NP_149062.1:p.Ser8333=
NM_182961.3:c.25143T>C	NP_892006.3:p.Ser8381=
XM_006715407.1:c.25248T>C	XP_006715470.1:p.Ser8416=
XM_006715408.1:c.25236T>C	XP_006715471.1:p.Ser8412=
XM_006715409.1:c.25227T>C	XP_006715472.1:p.Ser8409=
XM_006715410.1:c.25248T>C	XP_006715473.1:p.Ser8416=
XM_006715411.1:c.25197T>C	XP_006715474.1:p.Ser8399=
XM_006715412.1:c.25233T>C	XP_006715475.1:p.Ser8411=
XM_006715413.1:c.25179T>C	XP_006715476.1:p.Ser8393=
XM_006715414.1:c.25176T>C	XP_006715477.1:p.Ser8392=
XM_006715415.1:c.25179T>C	XP_006715478.1:p.Ser8393=
XM_006715416.1:c.25164T>C	XP_006715479.1:p.Ser8388=
XM_006715417.1:c.25107T>C	XP_006715480.1:p.Ser8369=
XM_006715420.1:c.25095T>C	XP_006715483.1:p.Ser8365=
XM_006715421.1:c.25092T>C	XP_006715484.1:p.Ser8364=
XM_006715422.1:c.25089T>C	XP_006715485.1:p.Ser8363=
XM_006715423.1:c.25248T>C	XP_006715486.1:p.Ser8416=
XM_006715424.1:c.25248T>C	XP_006715487.1:p.Ser8416=
XM_006715425.1:c.25179T>C	XP_006715488.1:p.Ser8393=
XM_011535641.1:c.25245T>C	XP_011533943.1:p.Ser8415=
XM_011535642.1:c.25233T>C	XP_011533944.1:p.Ser8411=
XM_011535643.1:c.25083T>C	XP_011533945.1:p.Ser8361=
XM_011535644.1:c.23523T>C	XP_011533946.1:p.Ser7841=
XM_011535645.1:c.23016T>C	XP_011533947.1:p.Ser7672=
XM_011535647.1:c.18483T>C	XP_011533949.1:p.Ser6161=
NM_001347701.1:c.1749T>C	NP_001334630.1:p.Ser583=
NM_001347702.1:c.1677T>C	NP_001334631.1:p.Ser559=
XM_006715408.2:c.25236T>C	XP_006715471.1:p.Ser8412=
XM_006715410.2:c.25248T>C	XP_006715473.1:p.Ser8416=
XM_006715412.2:c.25233T>C	XP_006715475.1:p.Ser8411=
XM_006715413.2:c.25179T>C	XP_006715476.1:p.Ser8393=
XM_006715415.2:c.25179T>C	XP_006715478.1:p.Ser8393=
XM_006715416.2:c.25164T>C	XP_006715479.1:p.Ser8388=
XM_006715417.2:c.25107T>C	XP_006715480.1:p.Ser8369=
XM_006715420.2:c.25095T>C	XP_006715483.1:p.Ser8365=
XM_006715421.2:c.25092T>C	XP_006715484.1:p.Ser8364=
XM_006715423.2:c.25248T>C	XP_006715486.1:p.Ser8416=
XM_006715424.2:c.25248T>C	XP_006715487.1:p.Ser8416=
XM_006715425.2:c.25179T>C	XP_006715488.1:p.Ser8393=
XM_011535641.2:c.25245T>C	XP_011533943.1:p.Ser8415=
XM_011535642.2:c.25233T>C	XP_011533944.1:p.Ser8411=
XM_011535645.2:c.23016T>C	XP_011533947.1:p.Ser7672=
XM_017010608.1:c.25248T>C	XP_016866097.1:p.Ser8416=
XM_017010609.1:c.25248T>C	XP_016866098.1:p.Ser8416=
XM_017010610.1:c.25227T>C	XP_016866099.1:p.Ser8409=
XM_017010611.2:c.25221T>C	XP_016866100.1:p.Ser8407=
XM_017010612.1:c.25170T>C	XP_016866101.1:p.Ser8390=
XM_017010613.1:c.25176T>C	XP_016866102.1:p.Ser8392=
XM_017010614.1:c.25092T>C	XP_016866103.1:p.Ser8364=
XM_017010615.1:c.25023T>C	XP_016866104.1:p.Ser8341=
XM_017010616.1:c.25179T>C	XP_016866105.1:p.Ser8393=
XM_017010617.1:c.25176T>C	XP_016866106.1:p.Ser8392=
XM_017010618.1:c.25164T>C	XP_016866107.1:p.Ser8388=
XM_017010619.1:c.23523T>C	XP_016866108.1:p.Ser7841=
NM_182961.4:c.25143T>C MANE Select	NP_892006.3:p.Ser8381=
NM_001347701.2:c.1749T>C	NP_001334630.1:p.Ser583=
NM_001347702.2:c.1677T>C MANE Plus Clinical	NP_001334631.1:p.Ser559=
NM_033071.5:c.24999T>C	NP_149062.2:p.Ser8333=