Canonical Allele Identifier: CA366080833

Gene: SYNE1

Linked Data

• dbSNP Id: rs1669609305
• gnomAD v4: 6-152140121-C-G
• COSMIC: COSM421023 ; COSM421024 ; COSM1133753 ; COSM4811634 ; COSM4811635
• MyVariant Identifiers: chr6:g.152461256C>G (hg19) ; chr6:g.152140121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140121C>G , CM000668.2:g.152140121C>G	GRCh38
NC_000006.11:g.152461256C>G , CM000668.1:g.152461256C>G	GRCh37
NC_000006.10:g.152502949C>G	NCBI36
NG_012855.1:g.502279G>C
NG_012855.2:g.502279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1821G>C MANE Plus Clinical	ENSP00000346701.4:p.Leu607Phe
ENST00000367255.10:c.25287G>C MANE Select	ENSP00000356224.5:p.Leu8429Phe
ENST00000423061.6:c.25143G>C	ENSP00000396024.1:p.Leu8381Phe
ENST00000672154.1:c.689G>C
ENST00000672169.1:c.1022G>C
ENST00000673173.1:c.931G>C
ENST00000673451.1:c.1059G>C	ENSP00000500189.1:p.Leu353Phe
ENST00000341594.9:c.24072G>C	ENSP00000341887.6:p.Leu8024Phe
ENST00000347037.9:n.2035G>C
ENST00000354674.4:c.1821G>C	ENSP00000346701.4:p.Leu607Phe
ENST00000367251.7:c.4122G>C	ENSP00000356220.3:p.Leu1374Phe
ENST00000367255.9:c.25287G>C	ENSP00000356224.5:p.Leu8429Phe
ENST00000367256.9:n.8979G>C
ENST00000367257.8:c.3225G>C	ENSP00000356226.4:p.Leu1075Phe
ENST00000409694.6:n.8871G>C
ENST00000423061.5:c.25143G>C	ENSP00000396024.1:p.Leu8381Phe
ENST00000460912.6:n.1901G>C
ENST00000478916.5:n.4309G>C
ENST00000536990.5:n.2124G>C
ENST00000539504.5:c.1752G>C	ENSP00000441052.1:p.Leu584Phe
NM_033071.3:c.25143G>C	NP_149062.1:p.Leu8381Phe
NM_182961.3:c.25287G>C	NP_892006.3:p.Leu8429Phe
XM_006715407.1:c.25392G>C	XP_006715470.1:p.Leu8464Phe
XM_006715408.1:c.25380G>C	XP_006715471.1:p.Leu8460Phe
XM_006715409.1:c.25371G>C	XP_006715472.1:p.Leu8457Phe
XM_006715410.1:c.25392G>C	XP_006715473.1:p.Leu8464Phe
XM_006715411.1:c.25341G>C	XP_006715474.1:p.Leu8447Phe
XM_006715412.1:c.25377G>C	XP_006715475.1:p.Leu8459Phe
XM_006715413.1:c.25323G>C	XP_006715476.1:p.Leu8441Phe
XM_006715414.1:c.25320G>C	XP_006715477.1:p.Leu8440Phe
XM_006715415.1:c.25323G>C	XP_006715478.1:p.Leu8441Phe
XM_006715416.1:c.25308G>C	XP_006715479.1:p.Leu8436Phe
XM_006715417.1:c.25251G>C	XP_006715480.1:p.Leu8417Phe
XM_006715420.1:c.25239G>C	XP_006715483.1:p.Leu8413Phe
XM_006715421.1:c.25236G>C	XP_006715484.1:p.Leu8412Phe
XM_006715422.1:c.25233G>C	XP_006715485.1:p.Leu8411Phe
XM_006715423.1:c.25392G>C	XP_006715486.1:p.Leu8464Phe
XM_006715424.1:c.25392G>C	XP_006715487.1:p.Leu8464Phe
XM_006715425.1:c.25323G>C	XP_006715488.1:p.Leu8441Phe
XM_011535641.1:c.25389G>C	XP_011533943.1:p.Leu8463Phe
XM_011535642.1:c.25377G>C	XP_011533944.1:p.Leu8459Phe
XM_011535643.1:c.25227G>C	XP_011533945.1:p.Leu8409Phe
XM_011535644.1:c.23667G>C	XP_011533946.1:p.Leu7889Phe
XM_011535645.1:c.23160G>C	XP_011533947.1:p.Leu7720Phe
XM_011535647.1:c.18627G>C	XP_011533949.1:p.Leu6209Phe
NM_001347701.1:c.1893G>C	NP_001334630.1:p.Leu631Phe
NM_001347702.1:c.1821G>C	NP_001334631.1:p.Leu607Phe
XM_006715408.2:c.25380G>C	XP_006715471.1:p.Leu8460Phe
XM_006715410.2:c.25392G>C	XP_006715473.1:p.Leu8464Phe
XM_006715412.2:c.25377G>C	XP_006715475.1:p.Leu8459Phe
XM_006715413.2:c.25323G>C	XP_006715476.1:p.Leu8441Phe
XM_006715415.2:c.25323G>C	XP_006715478.1:p.Leu8441Phe
XM_006715416.2:c.25308G>C	XP_006715479.1:p.Leu8436Phe
XM_006715417.2:c.25251G>C	XP_006715480.1:p.Leu8417Phe
XM_006715420.2:c.25239G>C	XP_006715483.1:p.Leu8413Phe
XM_006715421.2:c.25236G>C	XP_006715484.1:p.Leu8412Phe
XM_006715423.2:c.25392G>C	XP_006715486.1:p.Leu8464Phe
XM_006715424.2:c.25392G>C	XP_006715487.1:p.Leu8464Phe
XM_006715425.2:c.25323G>C	XP_006715488.1:p.Leu8441Phe
XM_011535641.2:c.25389G>C	XP_011533943.1:p.Leu8463Phe
XM_011535642.2:c.25377G>C	XP_011533944.1:p.Leu8459Phe
XM_011535645.2:c.23160G>C	XP_011533947.1:p.Leu7720Phe
XM_017010608.1:c.25392G>C	XP_016866097.1:p.Leu8464Phe
XM_017010609.1:c.25392G>C	XP_016866098.1:p.Leu8464Phe
XM_017010610.1:c.25371G>C	XP_016866099.1:p.Leu8457Phe
XM_017010611.2:c.25365G>C	XP_016866100.1:p.Leu8455Phe
XM_017010612.1:c.25314G>C	XP_016866101.1:p.Leu8438Phe
XM_017010613.1:c.25320G>C	XP_016866102.1:p.Leu8440Phe
XM_017010614.1:c.25236G>C	XP_016866103.1:p.Leu8412Phe
XM_017010615.1:c.25167G>C	XP_016866104.1:p.Leu8389Phe
XM_017010616.1:c.25323G>C	XP_016866105.1:p.Leu8441Phe
XM_017010617.1:c.25320G>C	XP_016866106.1:p.Leu8440Phe
XM_017010618.1:c.25308G>C	XP_016866107.1:p.Leu8436Phe
XM_017010619.1:c.23667G>C	XP_016866108.1:p.Leu7889Phe
NM_182961.4:c.25287G>C MANE Select	NP_892006.3:p.Leu8429Phe
NM_001347701.2:c.1893G>C	NP_001334630.1:p.Leu631Phe
NM_001347702.2:c.1821G>C MANE Plus Clinical	NP_001334631.1:p.Leu607Phe
NM_033071.5:c.25143G>C	NP_149062.2:p.Leu8381Phe