Canonical Allele Identifier: CA4052867

Gene: SYNE1

Linked Data

• dbSNP Id: rs375035420
• ExAC: 6:152461223 C / G
• gnomAD v3: 6-152140088-C-G
• gnomAD v4: 6-152140088-C-G
• MyVariant Identifiers: chr6:g.152461223C>G (hg19) ; chr6:g.152140088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140088C>G , CM000668.2:g.152140088C>G	GRCh38
NC_000006.11:g.152461223C>G , CM000668.1:g.152461223C>G	GRCh37
NC_000006.10:g.152502916C>G	NCBI36
NG_012855.1:g.502312G>C
NG_012855.2:g.502312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1854G>C MANE Plus Clinical	ENSP00000346701.4:p.Gln618His
ENST00000367255.10:c.25320G>C MANE Select	ENSP00000356224.5:p.Gln8440His
ENST00000423061.6:c.25176G>C	ENSP00000396024.1:p.Gln8392His
ENST00000672154.1:c.722G>C
ENST00000672169.1:c.1055G>C
ENST00000673173.1:c.964G>C
ENST00000673451.1:c.1092G>C	ENSP00000500189.1:p.Gln364His
ENST00000341594.9:c.24105G>C	ENSP00000341887.6:p.Gln8035His
ENST00000347037.9:n.2068G>C
ENST00000354674.4:c.1854G>C	ENSP00000346701.4:p.Gln618His
ENST00000367251.7:c.4155G>C	ENSP00000356220.3:p.Gln1385His
ENST00000367255.9:c.25320G>C	ENSP00000356224.5:p.Gln8440His
ENST00000367256.9:n.9012G>C
ENST00000367257.8:c.3258G>C	ENSP00000356226.4:p.Gln1086His
ENST00000409694.6:n.8904G>C
ENST00000423061.5:c.25176G>C	ENSP00000396024.1:p.Gln8392His
ENST00000460912.6:n.1934G>C
ENST00000478916.5:n.4342G>C
ENST00000536990.5:n.2157G>C
ENST00000539504.5:c.1785G>C	ENSP00000441052.1:p.Gln595His
NM_033071.3:c.25176G>C	NP_149062.1:p.Gln8392His
NM_182961.3:c.25320G>C	NP_892006.3:p.Gln8440His
XM_006715407.1:c.25425G>C	XP_006715470.1:p.Gln8475His
XM_006715408.1:c.25413G>C	XP_006715471.1:p.Gln8471His
XM_006715409.1:c.25404G>C	XP_006715472.1:p.Gln8468His
XM_006715410.1:c.25425G>C	XP_006715473.1:p.Gln8475His
XM_006715411.1:c.25374G>C	XP_006715474.1:p.Gln8458His
XM_006715412.1:c.25410G>C	XP_006715475.1:p.Gln8470His
XM_006715413.1:c.25356G>C	XP_006715476.1:p.Gln8452His
XM_006715414.1:c.25353G>C	XP_006715477.1:p.Gln8451His
XM_006715415.1:c.25356G>C	XP_006715478.1:p.Gln8452His
XM_006715416.1:c.25341G>C	XP_006715479.1:p.Gln8447His
XM_006715417.1:c.25284G>C	XP_006715480.1:p.Gln8428His
XM_006715420.1:c.25272G>C	XP_006715483.1:p.Gln8424His
XM_006715421.1:c.25269G>C	XP_006715484.1:p.Gln8423His
XM_006715422.1:c.25266G>C	XP_006715485.1:p.Gln8422His
XM_006715423.1:c.25425G>C	XP_006715486.1:p.Gln8475His
XM_006715424.1:c.25425G>C	XP_006715487.1:p.Gln8475His
XM_006715425.1:c.25356G>C	XP_006715488.1:p.Gln8452His
XM_011535641.1:c.25422G>C	XP_011533943.1:p.Gln8474His
XM_011535642.1:c.25410G>C	XP_011533944.1:p.Gln8470His
XM_011535643.1:c.25260G>C	XP_011533945.1:p.Gln8420His
XM_011535644.1:c.23700G>C	XP_011533946.1:p.Gln7900His
XM_011535645.1:c.23193G>C	XP_011533947.1:p.Gln7731His
XM_011535647.1:c.18660G>C	XP_011533949.1:p.Gln6220His
NM_001347701.1:c.1926G>C	NP_001334630.1:p.Gln642His
NM_001347702.1:c.1854G>C	NP_001334631.1:p.Gln618His
XM_006715408.2:c.25413G>C	XP_006715471.1:p.Gln8471His
XM_006715410.2:c.25425G>C	XP_006715473.1:p.Gln8475His
XM_006715412.2:c.25410G>C	XP_006715475.1:p.Gln8470His
XM_006715413.2:c.25356G>C	XP_006715476.1:p.Gln8452His
XM_006715415.2:c.25356G>C	XP_006715478.1:p.Gln8452His
XM_006715416.2:c.25341G>C	XP_006715479.1:p.Gln8447His
XM_006715417.2:c.25284G>C	XP_006715480.1:p.Gln8428His
XM_006715420.2:c.25272G>C	XP_006715483.1:p.Gln8424His
XM_006715421.2:c.25269G>C	XP_006715484.1:p.Gln8423His
XM_006715423.2:c.25425G>C	XP_006715486.1:p.Gln8475His
XM_006715424.2:c.25425G>C	XP_006715487.1:p.Gln8475His
XM_006715425.2:c.25356G>C	XP_006715488.1:p.Gln8452His
XM_011535641.2:c.25422G>C	XP_011533943.1:p.Gln8474His
XM_011535642.2:c.25410G>C	XP_011533944.1:p.Gln8470His
XM_011535645.2:c.23193G>C	XP_011533947.1:p.Gln7731His
XM_017010608.1:c.25425G>C	XP_016866097.1:p.Gln8475His
XM_017010609.1:c.25425G>C	XP_016866098.1:p.Gln8475His
XM_017010610.1:c.25404G>C	XP_016866099.1:p.Gln8468His
XM_017010611.2:c.25398G>C	XP_016866100.1:p.Gln8466His
XM_017010612.1:c.25347G>C	XP_016866101.1:p.Gln8449His
XM_017010613.1:c.25353G>C	XP_016866102.1:p.Gln8451His
XM_017010614.1:c.25269G>C	XP_016866103.1:p.Gln8423His
XM_017010615.1:c.25200G>C	XP_016866104.1:p.Gln8400His
XM_017010616.1:c.25356G>C	XP_016866105.1:p.Gln8452His
XM_017010617.1:c.25353G>C	XP_016866106.1:p.Gln8451His
XM_017010618.1:c.25341G>C	XP_016866107.1:p.Gln8447His
XM_017010619.1:c.23700G>C	XP_016866108.1:p.Gln7900His
NM_182961.4:c.25320G>C MANE Select	NP_892006.3:p.Gln8440His
NM_001347701.2:c.1926G>C	NP_001334630.1:p.Gln642His
NM_001347702.2:c.1854G>C MANE Plus Clinical	NP_001334631.1:p.Gln618His
NM_033071.5:c.25176G>C	NP_149062.2:p.Gln8392His