Canonical Allele Identifier: CA4052892

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 538403
• ClinVar RCV Id: RCV000647655 ; RCV003140037
• dbSNP Id: rs759512753
• ExAC: 6:152462343 G / A
• gnomAD v2: 6-152462343-G-A
• gnomAD v3: 6-152141208-G-A
• gnomAD v4: 6-152141208-G-A
• COSMIC: COSM206477 ; COSM206478 ; COSM1568007 ; COSM5067608 ; COSM5067609
• MyVariant Identifiers: chr6:g.152462343G>A (hg19) ; chr6:g.152141208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141208G>A , CM000668.2:g.152141208G>A	GRCh38
NC_000006.11:g.152462343G>A , CM000668.1:g.152462343G>A	GRCh37
NC_000006.10:g.152504036G>A	NCBI36
NG_012855.1:g.501192C>T
NG_012855.2:g.501192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1775C>T MANE Plus Clinical	ENSP00000346701.4:p.Thr592Met
ENST00000367255.10:c.25241C>T MANE Select	ENSP00000356224.5:p.Thr8414Met
ENST00000423061.6:c.25097C>T	ENSP00000396024.1:p.Thr8366Met
ENST00000672154.1:c.643C>T
ENST00000672169.1:c.976C>T
ENST00000673173.1:c.891-1047C>T
ENST00000673451.1:c.1013C>T	ENSP00000500189.1:p.Thr338Met
ENST00000341594.9:c.24026C>T	ENSP00000341887.6:p.Thr8009Met
ENST00000347037.9:n.1989C>T
ENST00000354674.4:c.1775C>T	ENSP00000346701.4:p.Thr592Met
ENST00000367251.7:c.4076C>T	ENSP00000356220.3:p.Thr1359Met
ENST00000367255.9:c.25241C>T	ENSP00000356224.5:p.Thr8414Met
ENST00000367256.9:n.8933C>T
ENST00000367257.8:c.3179C>T	ENSP00000356226.4:p.Thr1060Met
ENST00000409694.6:n.8825C>T
ENST00000423061.5:c.25097C>T	ENSP00000396024.1:p.Thr8366Met
ENST00000460912.6:n.1855C>T
ENST00000478916.5:n.4263C>T
ENST00000536990.5:n.2078C>T
ENST00000539504.5:c.1706C>T	ENSP00000441052.1:p.Thr569Met
NM_033071.3:c.25097C>T	NP_149062.1:p.Thr8366Met
NM_182961.3:c.25241C>T	NP_892006.3:p.Thr8414Met
XM_006715407.1:c.25346C>T	XP_006715470.1:p.Thr8449Met
XM_006715408.1:c.25334C>T	XP_006715471.1:p.Thr8445Met
XM_006715409.1:c.25325C>T	XP_006715472.1:p.Thr8442Met
XM_006715410.1:c.25346C>T	XP_006715473.1:p.Thr8449Met
XM_006715411.1:c.25295C>T	XP_006715474.1:p.Thr8432Met
XM_006715412.1:c.25331C>T	XP_006715475.1:p.Thr8444Met
XM_006715413.1:c.25277C>T	XP_006715476.1:p.Thr8426Met
XM_006715414.1:c.25274C>T	XP_006715477.1:p.Thr8425Met
XM_006715415.1:c.25277C>T	XP_006715478.1:p.Thr8426Met
XM_006715416.1:c.25262C>T	XP_006715479.1:p.Thr8421Met
XM_006715417.1:c.25205C>T	XP_006715480.1:p.Thr8402Met
XM_006715420.1:c.25193C>T	XP_006715483.1:p.Thr8398Met
XM_006715421.1:c.25190C>T	XP_006715484.1:p.Thr8397Met
XM_006715422.1:c.25187C>T	XP_006715485.1:p.Thr8396Met
XM_006715423.1:c.25346C>T	XP_006715486.1:p.Thr8449Met
XM_006715424.1:c.25346C>T	XP_006715487.1:p.Thr8449Met
XM_006715425.1:c.25277C>T	XP_006715488.1:p.Thr8426Met
XM_011535641.1:c.25343C>T	XP_011533943.1:p.Thr8448Met
XM_011535642.1:c.25331C>T	XP_011533944.1:p.Thr8444Met
XM_011535643.1:c.25181C>T	XP_011533945.1:p.Thr8394Met
XM_011535644.1:c.23621C>T	XP_011533946.1:p.Thr7874Met
XM_011535645.1:c.23114C>T	XP_011533947.1:p.Thr7705Met
XM_011535647.1:c.18581C>T	XP_011533949.1:p.Thr6194Met
NM_001347701.1:c.1847C>T	NP_001334630.1:p.Thr616Met
NM_001347702.1:c.1775C>T	NP_001334631.1:p.Thr592Met
XM_006715408.2:c.25334C>T	XP_006715471.1:p.Thr8445Met
XM_006715410.2:c.25346C>T	XP_006715473.1:p.Thr8449Met
XM_006715412.2:c.25331C>T	XP_006715475.1:p.Thr8444Met
XM_006715413.2:c.25277C>T	XP_006715476.1:p.Thr8426Met
XM_006715415.2:c.25277C>T	XP_006715478.1:p.Thr8426Met
XM_006715416.2:c.25262C>T	XP_006715479.1:p.Thr8421Met
XM_006715417.2:c.25205C>T	XP_006715480.1:p.Thr8402Met
XM_006715420.2:c.25193C>T	XP_006715483.1:p.Thr8398Met
XM_006715421.2:c.25190C>T	XP_006715484.1:p.Thr8397Met
XM_006715423.2:c.25346C>T	XP_006715486.1:p.Thr8449Met
XM_006715424.2:c.25346C>T	XP_006715487.1:p.Thr8449Met
XM_006715425.2:c.25277C>T	XP_006715488.1:p.Thr8426Met
XM_011535641.2:c.25343C>T	XP_011533943.1:p.Thr8448Met
XM_011535642.2:c.25331C>T	XP_011533944.1:p.Thr8444Met
XM_011535645.2:c.23114C>T	XP_011533947.1:p.Thr7705Met
XM_017010608.1:c.25346C>T	XP_016866097.1:p.Thr8449Met
XM_017010609.1:c.25346C>T	XP_016866098.1:p.Thr8449Met
XM_017010610.1:c.25325C>T	XP_016866099.1:p.Thr8442Met
XM_017010611.2:c.25319C>T	XP_016866100.1:p.Thr8440Met
XM_017010612.1:c.25268C>T	XP_016866101.1:p.Thr8423Met
XM_017010613.1:c.25274C>T	XP_016866102.1:p.Thr8425Met
XM_017010614.1:c.25190C>T	XP_016866103.1:p.Thr8397Met
XM_017010615.1:c.25121C>T	XP_016866104.1:p.Thr8374Met
XM_017010616.1:c.25277C>T	XP_016866105.1:p.Thr8426Met
XM_017010617.1:c.25274C>T	XP_016866106.1:p.Thr8425Met
XM_017010618.1:c.25262C>T	XP_016866107.1:p.Thr8421Met
XM_017010619.1:c.23621C>T	XP_016866108.1:p.Thr7874Met
NM_182961.4:c.25241C>T MANE Select	NP_892006.3:p.Thr8414Met
NM_001347701.2:c.1847C>T	NP_001334630.1:p.Thr616Met
NM_001347702.2:c.1775C>T MANE Plus Clinical	NP_001334631.1:p.Thr592Met
NM_033071.5:c.25097C>T	NP_149062.2:p.Thr8366Met