Canonical Allele Identifier: CA366080618

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140090-G-A
• MyVariant Identifiers: chr6:g.152461225G>A (hg19) ; chr6:g.152140090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140090G>A , CM000668.2:g.152140090G>A	GRCh38
NC_000006.11:g.152461225G>A , CM000668.1:g.152461225G>A	GRCh37
NC_000006.10:g.152502918G>A	NCBI36
NG_012855.1:g.502310C>T
NG_012855.2:g.502310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1852C>T MANE Plus Clinical	ENSP00000346701.4:p.Gln618Ter
ENST00000367255.10:c.25318C>T MANE Select	ENSP00000356224.5:p.Gln8440Ter
ENST00000423061.6:c.25174C>T	ENSP00000396024.1:p.Gln8392Ter
ENST00000672154.1:c.720C>T
ENST00000672169.1:c.1053C>T
ENST00000673173.1:c.962C>T
ENST00000673451.1:c.1090C>T	ENSP00000500189.1:p.Gln364Ter
ENST00000341594.9:c.24103C>T	ENSP00000341887.6:p.Gln8035Ter
ENST00000347037.9:n.2066C>T
ENST00000354674.4:c.1852C>T	ENSP00000346701.4:p.Gln618Ter
ENST00000367251.7:c.4153C>T	ENSP00000356220.3:p.Gln1385Ter
ENST00000367255.9:c.25318C>T	ENSP00000356224.5:p.Gln8440Ter
ENST00000367256.9:n.9010C>T
ENST00000367257.8:c.3256C>T	ENSP00000356226.4:p.Gln1086Ter
ENST00000409694.6:n.8902C>T
ENST00000423061.5:c.25174C>T	ENSP00000396024.1:p.Gln8392Ter
ENST00000460912.6:n.1932C>T
ENST00000478916.5:n.4340C>T
ENST00000536990.5:n.2155C>T
ENST00000539504.5:c.1783C>T	ENSP00000441052.1:p.Gln595Ter
NM_033071.3:c.25174C>T	NP_149062.1:p.Gln8392Ter
NM_182961.3:c.25318C>T	NP_892006.3:p.Gln8440Ter
XM_006715407.1:c.25423C>T	XP_006715470.1:p.Gln8475Ter
XM_006715408.1:c.25411C>T	XP_006715471.1:p.Gln8471Ter
XM_006715409.1:c.25402C>T	XP_006715472.1:p.Gln8468Ter
XM_006715410.1:c.25423C>T	XP_006715473.1:p.Gln8475Ter
XM_006715411.1:c.25372C>T	XP_006715474.1:p.Gln8458Ter
XM_006715412.1:c.25408C>T	XP_006715475.1:p.Gln8470Ter
XM_006715413.1:c.25354C>T	XP_006715476.1:p.Gln8452Ter
XM_006715414.1:c.25351C>T	XP_006715477.1:p.Gln8451Ter
XM_006715415.1:c.25354C>T	XP_006715478.1:p.Gln8452Ter
XM_006715416.1:c.25339C>T	XP_006715479.1:p.Gln8447Ter
XM_006715417.1:c.25282C>T	XP_006715480.1:p.Gln8428Ter
XM_006715420.1:c.25270C>T	XP_006715483.1:p.Gln8424Ter
XM_006715421.1:c.25267C>T	XP_006715484.1:p.Gln8423Ter
XM_006715422.1:c.25264C>T	XP_006715485.1:p.Gln8422Ter
XM_006715423.1:c.25423C>T	XP_006715486.1:p.Gln8475Ter
XM_006715424.1:c.25423C>T	XP_006715487.1:p.Gln8475Ter
XM_006715425.1:c.25354C>T	XP_006715488.1:p.Gln8452Ter
XM_011535641.1:c.25420C>T	XP_011533943.1:p.Gln8474Ter
XM_011535642.1:c.25408C>T	XP_011533944.1:p.Gln8470Ter
XM_011535643.1:c.25258C>T	XP_011533945.1:p.Gln8420Ter
XM_011535644.1:c.23698C>T	XP_011533946.1:p.Gln7900Ter
XM_011535645.1:c.23191C>T	XP_011533947.1:p.Gln7731Ter
XM_011535647.1:c.18658C>T	XP_011533949.1:p.Gln6220Ter
NM_001347701.1:c.1924C>T	NP_001334630.1:p.Gln642Ter
NM_001347702.1:c.1852C>T	NP_001334631.1:p.Gln618Ter
XM_006715408.2:c.25411C>T	XP_006715471.1:p.Gln8471Ter
XM_006715410.2:c.25423C>T	XP_006715473.1:p.Gln8475Ter
XM_006715412.2:c.25408C>T	XP_006715475.1:p.Gln8470Ter
XM_006715413.2:c.25354C>T	XP_006715476.1:p.Gln8452Ter
XM_006715415.2:c.25354C>T	XP_006715478.1:p.Gln8452Ter
XM_006715416.2:c.25339C>T	XP_006715479.1:p.Gln8447Ter
XM_006715417.2:c.25282C>T	XP_006715480.1:p.Gln8428Ter
XM_006715420.2:c.25270C>T	XP_006715483.1:p.Gln8424Ter
XM_006715421.2:c.25267C>T	XP_006715484.1:p.Gln8423Ter
XM_006715423.2:c.25423C>T	XP_006715486.1:p.Gln8475Ter
XM_006715424.2:c.25423C>T	XP_006715487.1:p.Gln8475Ter
XM_006715425.2:c.25354C>T	XP_006715488.1:p.Gln8452Ter
XM_011535641.2:c.25420C>T	XP_011533943.1:p.Gln8474Ter
XM_011535642.2:c.25408C>T	XP_011533944.1:p.Gln8470Ter
XM_011535645.2:c.23191C>T	XP_011533947.1:p.Gln7731Ter
XM_017010608.1:c.25423C>T	XP_016866097.1:p.Gln8475Ter
XM_017010609.1:c.25423C>T	XP_016866098.1:p.Gln8475Ter
XM_017010610.1:c.25402C>T	XP_016866099.1:p.Gln8468Ter
XM_017010611.2:c.25396C>T	XP_016866100.1:p.Gln8466Ter
XM_017010612.1:c.25345C>T	XP_016866101.1:p.Gln8449Ter
XM_017010613.1:c.25351C>T	XP_016866102.1:p.Gln8451Ter
XM_017010614.1:c.25267C>T	XP_016866103.1:p.Gln8423Ter
XM_017010615.1:c.25198C>T	XP_016866104.1:p.Gln8400Ter
XM_017010616.1:c.25354C>T	XP_016866105.1:p.Gln8452Ter
XM_017010617.1:c.25351C>T	XP_016866106.1:p.Gln8451Ter
XM_017010618.1:c.25339C>T	XP_016866107.1:p.Gln8447Ter
XM_017010619.1:c.23698C>T	XP_016866108.1:p.Gln7900Ter
NM_182961.4:c.25318C>T MANE Select	NP_892006.3:p.Gln8440Ter
NM_001347701.2:c.1924C>T	NP_001334630.1:p.Gln642Ter
NM_001347702.2:c.1852C>T MANE Plus Clinical	NP_001334631.1:p.Gln618Ter
NM_033071.5:c.25174C>T	NP_149062.2:p.Gln8392Ter