Canonical Allele Identifier: CA366081045

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 2436663
• ClinVar RCV Id: RCV003138999
• dbSNP Id: rs2058223015
• gnomAD v3: 6-152140155-A-G
• gnomAD v4: 6-152140155-A-G
• MyVariant Identifiers: chr6:g.152461290A>G (hg19) ; chr6:g.152140155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140155A>G , CM000668.2:g.152140155A>G	GRCh38
NC_000006.11:g.152461290A>G , CM000668.1:g.152461290A>G	GRCh37
NC_000006.10:g.152502983A>G	NCBI36
NG_012855.1:g.502245T>C
NG_012855.2:g.502245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1787T>C MANE Plus Clinical	ENSP00000346701.4:p.Ile596Thr
ENST00000367255.10:c.25253T>C MANE Select	ENSP00000356224.5:p.Ile8418Thr
ENST00000423061.6:c.25109T>C	ENSP00000396024.1:p.Ile8370Thr
ENST00000672154.1:c.655T>C
ENST00000672169.1:c.988T>C
ENST00000673173.1:c.897T>C
ENST00000673451.1:c.1025T>C	ENSP00000500189.1:p.Ile342Thr
ENST00000341594.9:c.24038T>C	ENSP00000341887.6:p.Ile8013Thr
ENST00000347037.9:n.2001T>C
ENST00000354674.4:c.1787T>C	ENSP00000346701.4:p.Ile596Thr
ENST00000367251.7:c.4088T>C	ENSP00000356220.3:p.Ile1363Thr
ENST00000367255.9:c.25253T>C	ENSP00000356224.5:p.Ile8418Thr
ENST00000367256.9:n.8945T>C
ENST00000367257.8:c.3191T>C	ENSP00000356226.4:p.Ile1064Thr
ENST00000409694.6:n.8837T>C
ENST00000423061.5:c.25109T>C	ENSP00000396024.1:p.Ile8370Thr
ENST00000460912.6:n.1867T>C
ENST00000478916.5:n.4275T>C
ENST00000536990.5:n.2090T>C
ENST00000539504.5:c.1718T>C	ENSP00000441052.1:p.Ile573Thr
NM_033071.3:c.25109T>C	NP_149062.1:p.Ile8370Thr
NM_182961.3:c.25253T>C	NP_892006.3:p.Ile8418Thr
XM_006715407.1:c.25358T>C	XP_006715470.1:p.Ile8453Thr
XM_006715408.1:c.25346T>C	XP_006715471.1:p.Ile8449Thr
XM_006715409.1:c.25337T>C	XP_006715472.1:p.Ile8446Thr
XM_006715410.1:c.25358T>C	XP_006715473.1:p.Ile8453Thr
XM_006715411.1:c.25307T>C	XP_006715474.1:p.Ile8436Thr
XM_006715412.1:c.25343T>C	XP_006715475.1:p.Ile8448Thr
XM_006715413.1:c.25289T>C	XP_006715476.1:p.Ile8430Thr
XM_006715414.1:c.25286T>C	XP_006715477.1:p.Ile8429Thr
XM_006715415.1:c.25289T>C	XP_006715478.1:p.Ile8430Thr
XM_006715416.1:c.25274T>C	XP_006715479.1:p.Ile8425Thr
XM_006715417.1:c.25217T>C	XP_006715480.1:p.Ile8406Thr
XM_006715420.1:c.25205T>C	XP_006715483.1:p.Ile8402Thr
XM_006715421.1:c.25202T>C	XP_006715484.1:p.Ile8401Thr
XM_006715422.1:c.25199T>C	XP_006715485.1:p.Ile8400Thr
XM_006715423.1:c.25358T>C	XP_006715486.1:p.Ile8453Thr
XM_006715424.1:c.25358T>C	XP_006715487.1:p.Ile8453Thr
XM_006715425.1:c.25289T>C	XP_006715488.1:p.Ile8430Thr
XM_011535641.1:c.25355T>C	XP_011533943.1:p.Ile8452Thr
XM_011535642.1:c.25343T>C	XP_011533944.1:p.Ile8448Thr
XM_011535643.1:c.25193T>C	XP_011533945.1:p.Ile8398Thr
XM_011535644.1:c.23633T>C	XP_011533946.1:p.Ile7878Thr
XM_011535645.1:c.23126T>C	XP_011533947.1:p.Ile7709Thr
XM_011535647.1:c.18593T>C	XP_011533949.1:p.Ile6198Thr
NM_001347701.1:c.1859T>C	NP_001334630.1:p.Ile620Thr
NM_001347702.1:c.1787T>C	NP_001334631.1:p.Ile596Thr
XM_006715408.2:c.25346T>C	XP_006715471.1:p.Ile8449Thr
XM_006715410.2:c.25358T>C	XP_006715473.1:p.Ile8453Thr
XM_006715412.2:c.25343T>C	XP_006715475.1:p.Ile8448Thr
XM_006715413.2:c.25289T>C	XP_006715476.1:p.Ile8430Thr
XM_006715415.2:c.25289T>C	XP_006715478.1:p.Ile8430Thr
XM_006715416.2:c.25274T>C	XP_006715479.1:p.Ile8425Thr
XM_006715417.2:c.25217T>C	XP_006715480.1:p.Ile8406Thr
XM_006715420.2:c.25205T>C	XP_006715483.1:p.Ile8402Thr
XM_006715421.2:c.25202T>C	XP_006715484.1:p.Ile8401Thr
XM_006715423.2:c.25358T>C	XP_006715486.1:p.Ile8453Thr
XM_006715424.2:c.25358T>C	XP_006715487.1:p.Ile8453Thr
XM_006715425.2:c.25289T>C	XP_006715488.1:p.Ile8430Thr
XM_011535641.2:c.25355T>C	XP_011533943.1:p.Ile8452Thr
XM_011535642.2:c.25343T>C	XP_011533944.1:p.Ile8448Thr
XM_011535645.2:c.23126T>C	XP_011533947.1:p.Ile7709Thr
XM_017010608.1:c.25358T>C	XP_016866097.1:p.Ile8453Thr
XM_017010609.1:c.25358T>C	XP_016866098.1:p.Ile8453Thr
XM_017010610.1:c.25337T>C	XP_016866099.1:p.Ile8446Thr
XM_017010611.2:c.25331T>C	XP_016866100.1:p.Ile8444Thr
XM_017010612.1:c.25280T>C	XP_016866101.1:p.Ile8427Thr
XM_017010613.1:c.25286T>C	XP_016866102.1:p.Ile8429Thr
XM_017010614.1:c.25202T>C	XP_016866103.1:p.Ile8401Thr
XM_017010615.1:c.25133T>C	XP_016866104.1:p.Ile8378Thr
XM_017010616.1:c.25289T>C	XP_016866105.1:p.Ile8430Thr
XM_017010617.1:c.25286T>C	XP_016866106.1:p.Ile8429Thr
XM_017010618.1:c.25274T>C	XP_016866107.1:p.Ile8425Thr
XM_017010619.1:c.23633T>C	XP_016866108.1:p.Ile7878Thr
NM_182961.4:c.25253T>C MANE Select	NP_892006.3:p.Ile8418Thr
NM_001347701.2:c.1859T>C	NP_001334630.1:p.Ile620Thr
NM_001347702.2:c.1787T>C MANE Plus Clinical	NP_001334631.1:p.Ile596Thr
NM_033071.5:c.25109T>C	NP_149062.2:p.Ile8370Thr