Canonical Allele Identifier: CA366082933

Gene: SYNE1

Linked Data

• dbSNP Id: rs2058919683
• gnomAD v4: 6-152143636-C-G
• MyVariant Identifiers: chr6:g.152464771C>G (hg19) ; chr6:g.152143636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143636C>G , CM000668.2:g.152143636C>G	GRCh38
NC_000006.11:g.152464771C>G , CM000668.1:g.152464771C>G	GRCh37
NC_000006.10:g.152506464C>G	NCBI36
NG_012855.1:g.498764G>C
NG_012855.2:g.498764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1640G>C MANE Plus Clinical	ENSP00000346701.4:p.Ser547Thr
ENST00000367255.10:c.25106G>C MANE Select	ENSP00000356224.5:p.Ser8369Thr
ENST00000423061.6:c.24962G>C	ENSP00000396024.1:p.Ser8321Thr
ENST00000672154.1:c.508G>C
ENST00000672169.1:c.841G>C
ENST00000673173.1:c.891-3475G>C
ENST00000673451.1:c.878G>C	ENSP00000500189.1:p.Ser293Thr
ENST00000341594.9:c.23891G>C	ENSP00000341887.6:p.Ser7964Thr
ENST00000347037.9:n.1854G>C
ENST00000354674.4:c.1640G>C	ENSP00000346701.4:p.Ser547Thr
ENST00000367251.7:c.3941G>C	ENSP00000356220.3:p.Ser1314Thr
ENST00000367255.9:c.25106G>C	ENSP00000356224.5:p.Ser8369Thr
ENST00000367256.9:n.8798G>C
ENST00000367257.8:c.3044G>C	ENSP00000356226.4:p.Ser1015Thr
ENST00000409694.6:n.8690G>C
ENST00000423061.5:c.24962G>C	ENSP00000396024.1:p.Ser8321Thr
ENST00000460912.6:n.1720G>C
ENST00000478916.5:n.4128G>C
ENST00000536990.5:n.1943G>C
ENST00000539504.5:c.1571G>C	ENSP00000441052.1:p.Ser524Thr
NM_033071.3:c.24962G>C	NP_149062.1:p.Ser8321Thr
NM_182961.3:c.25106G>C	NP_892006.3:p.Ser8369Thr
XM_006715407.1:c.25211G>C	XP_006715470.1:p.Ser8404Thr
XM_006715408.1:c.25199G>C	XP_006715471.1:p.Ser8400Thr
XM_006715409.1:c.25190G>C	XP_006715472.1:p.Ser8397Thr
XM_006715410.1:c.25211G>C	XP_006715473.1:p.Ser8404Thr
XM_006715411.1:c.25160G>C	XP_006715474.1:p.Ser8387Thr
XM_006715412.1:c.25196G>C	XP_006715475.1:p.Ser8399Thr
XM_006715413.1:c.25142G>C	XP_006715476.1:p.Ser8381Thr
XM_006715414.1:c.25139G>C	XP_006715477.1:p.Ser8380Thr
XM_006715415.1:c.25142G>C	XP_006715478.1:p.Ser8381Thr
XM_006715416.1:c.25127G>C	XP_006715479.1:p.Ser8376Thr
XM_006715417.1:c.25070G>C	XP_006715480.1:p.Ser8357Thr
XM_006715420.1:c.25058G>C	XP_006715483.1:p.Ser8353Thr
XM_006715421.1:c.25055G>C	XP_006715484.1:p.Ser8352Thr
XM_006715422.1:c.25052G>C	XP_006715485.1:p.Ser8351Thr
XM_006715423.1:c.25211G>C	XP_006715486.1:p.Ser8404Thr
XM_006715424.1:c.25211G>C	XP_006715487.1:p.Ser8404Thr
XM_006715425.1:c.25142G>C	XP_006715488.1:p.Ser8381Thr
XM_011535641.1:c.25208G>C	XP_011533943.1:p.Ser8403Thr
XM_011535642.1:c.25196G>C	XP_011533944.1:p.Ser8399Thr
XM_011535643.1:c.25046G>C	XP_011533945.1:p.Ser8349Thr
XM_011535644.1:c.23486G>C	XP_011533946.1:p.Ser7829Thr
XM_011535645.1:c.22979G>C	XP_011533947.1:p.Ser7660Thr
XM_011535647.1:c.18446G>C	XP_011533949.1:p.Ser6149Thr
NM_001347701.1:c.1712G>C	NP_001334630.1:p.Ser571Thr
NM_001347702.1:c.1640G>C	NP_001334631.1:p.Ser547Thr
XM_006715408.2:c.25199G>C	XP_006715471.1:p.Ser8400Thr
XM_006715410.2:c.25211G>C	XP_006715473.1:p.Ser8404Thr
XM_006715412.2:c.25196G>C	XP_006715475.1:p.Ser8399Thr
XM_006715413.2:c.25142G>C	XP_006715476.1:p.Ser8381Thr
XM_006715415.2:c.25142G>C	XP_006715478.1:p.Ser8381Thr
XM_006715416.2:c.25127G>C	XP_006715479.1:p.Ser8376Thr
XM_006715417.2:c.25070G>C	XP_006715480.1:p.Ser8357Thr
XM_006715420.2:c.25058G>C	XP_006715483.1:p.Ser8353Thr
XM_006715421.2:c.25055G>C	XP_006715484.1:p.Ser8352Thr
XM_006715423.2:c.25211G>C	XP_006715486.1:p.Ser8404Thr
XM_006715424.2:c.25211G>C	XP_006715487.1:p.Ser8404Thr
XM_006715425.2:c.25142G>C	XP_006715488.1:p.Ser8381Thr
XM_011535641.2:c.25208G>C	XP_011533943.1:p.Ser8403Thr
XM_011535642.2:c.25196G>C	XP_011533944.1:p.Ser8399Thr
XM_011535645.2:c.22979G>C	XP_011533947.1:p.Ser7660Thr
XM_017010608.1:c.25211G>C	XP_016866097.1:p.Ser8404Thr
XM_017010609.1:c.25211G>C	XP_016866098.1:p.Ser8404Thr
XM_017010610.1:c.25190G>C	XP_016866099.1:p.Ser8397Thr
XM_017010611.2:c.25184G>C	XP_016866100.1:p.Ser8395Thr
XM_017010612.1:c.25133G>C	XP_016866101.1:p.Ser8378Thr
XM_017010613.1:c.25139G>C	XP_016866102.1:p.Ser8380Thr
XM_017010614.1:c.25055G>C	XP_016866103.1:p.Ser8352Thr
XM_017010615.1:c.24986G>C	XP_016866104.1:p.Ser8329Thr
XM_017010616.1:c.25142G>C	XP_016866105.1:p.Ser8381Thr
XM_017010617.1:c.25139G>C	XP_016866106.1:p.Ser8380Thr
XM_017010618.1:c.25127G>C	XP_016866107.1:p.Ser8376Thr
XM_017010619.1:c.23486G>C	XP_016866108.1:p.Ser7829Thr
NM_182961.4:c.25106G>C MANE Select	NP_892006.3:p.Ser8369Thr
NM_001347701.2:c.1712G>C	NP_001334630.1:p.Ser571Thr
NM_001347702.2:c.1640G>C MANE Plus Clinical	NP_001334631.1:p.Ser547Thr
NM_033071.5:c.24962G>C	NP_149062.2:p.Ser8321Thr