Canonical Allele Identifier: CA366080247

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461169G>C (hg19) ; chr6:g.152140034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140034G>C , CM000668.2:g.152140034G>C	GRCh38
NC_000006.11:g.152461169G>C , CM000668.1:g.152461169G>C	GRCh37
NC_000006.10:g.152502862G>C	NCBI36
NG_012855.1:g.502366C>G
NG_012855.2:g.502366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1908C>G MANE Plus Clinical	ENSP00000346701.4:p.Asp636Glu
ENST00000367255.10:c.25374C>G MANE Select	ENSP00000356224.5:p.Asp8458Glu
ENST00000423061.6:c.25230C>G	ENSP00000396024.1:p.Asp8410Glu
ENST00000672154.1:c.776C>G
ENST00000672169.1:c.1109C>G
ENST00000673173.1:c.1018C>G
ENST00000673451.1:c.1146C>G	ENSP00000500189.1:p.Asp382Glu
ENST00000341594.9:c.24159C>G	ENSP00000341887.6:p.Asp8053Glu
ENST00000347037.9:n.2122C>G
ENST00000354674.4:c.1908C>G	ENSP00000346701.4:p.Asp636Glu
ENST00000367251.7:c.4209C>G	ENSP00000356220.3:p.Asp1403Glu
ENST00000367255.9:c.25374C>G	ENSP00000356224.5:p.Asp8458Glu
ENST00000367256.9:n.9066C>G
ENST00000367257.8:c.3312C>G	ENSP00000356226.4:p.Asp1104Glu
ENST00000409694.6:n.8958C>G
ENST00000423061.5:c.25230C>G	ENSP00000396024.1:p.Asp8410Glu
ENST00000460912.6:n.1988C>G
ENST00000478916.5:n.4396C>G
ENST00000536990.5:n.2211C>G
ENST00000539504.5:c.1839C>G	ENSP00000441052.1:p.Asp613Glu
NM_033071.3:c.25230C>G	NP_149062.1:p.Asp8410Glu
NM_182961.3:c.25374C>G	NP_892006.3:p.Asp8458Glu
XM_006715407.1:c.25479C>G	XP_006715470.1:p.Asp8493Glu
XM_006715408.1:c.25467C>G	XP_006715471.1:p.Asp8489Glu
XM_006715409.1:c.25458C>G	XP_006715472.1:p.Asp8486Glu
XM_006715410.1:c.25479C>G	XP_006715473.1:p.Asp8493Glu
XM_006715411.1:c.25428C>G	XP_006715474.1:p.Asp8476Glu
XM_006715412.1:c.25464C>G	XP_006715475.1:p.Asp8488Glu
XM_006715413.1:c.25410C>G	XP_006715476.1:p.Asp8470Glu
XM_006715414.1:c.25407C>G	XP_006715477.1:p.Asp8469Glu
XM_006715415.1:c.25410C>G	XP_006715478.1:p.Asp8470Glu
XM_006715416.1:c.25395C>G	XP_006715479.1:p.Asp8465Glu
XM_006715417.1:c.25338C>G	XP_006715480.1:p.Asp8446Glu
XM_006715420.1:c.25326C>G	XP_006715483.1:p.Asp8442Glu
XM_006715421.1:c.25323C>G	XP_006715484.1:p.Asp8441Glu
XM_006715422.1:c.25320C>G	XP_006715485.1:p.Asp8440Glu
XM_006715423.1:c.25479C>G	XP_006715486.1:p.Asp8493Glu
XM_006715424.1:c.25479C>G	XP_006715487.1:p.Asp8493Glu
XM_006715425.1:c.25410C>G	XP_006715488.1:p.Asp8470Glu
XM_011535641.1:c.25476C>G	XP_011533943.1:p.Asp8492Glu
XM_011535642.1:c.25464C>G	XP_011533944.1:p.Asp8488Glu
XM_011535643.1:c.25314C>G	XP_011533945.1:p.Asp8438Glu
XM_011535644.1:c.23754C>G	XP_011533946.1:p.Asp7918Glu
XM_011535645.1:c.23247C>G	XP_011533947.1:p.Asp7749Glu
XM_011535647.1:c.18714C>G	XP_011533949.1:p.Asp6238Glu
NM_001347701.1:c.1980C>G	NP_001334630.1:p.Asp660Glu
NM_001347702.1:c.1908C>G	NP_001334631.1:p.Asp636Glu
XM_006715408.2:c.25467C>G	XP_006715471.1:p.Asp8489Glu
XM_006715410.2:c.25479C>G	XP_006715473.1:p.Asp8493Glu
XM_006715412.2:c.25464C>G	XP_006715475.1:p.Asp8488Glu
XM_006715413.2:c.25410C>G	XP_006715476.1:p.Asp8470Glu
XM_006715415.2:c.25410C>G	XP_006715478.1:p.Asp8470Glu
XM_006715416.2:c.25395C>G	XP_006715479.1:p.Asp8465Glu
XM_006715417.2:c.25338C>G	XP_006715480.1:p.Asp8446Glu
XM_006715420.2:c.25326C>G	XP_006715483.1:p.Asp8442Glu
XM_006715421.2:c.25323C>G	XP_006715484.1:p.Asp8441Glu
XM_006715423.2:c.25479C>G	XP_006715486.1:p.Asp8493Glu
XM_006715424.2:c.25479C>G	XP_006715487.1:p.Asp8493Glu
XM_006715425.2:c.25410C>G	XP_006715488.1:p.Asp8470Glu
XM_011535641.2:c.25476C>G	XP_011533943.1:p.Asp8492Glu
XM_011535642.2:c.25464C>G	XP_011533944.1:p.Asp8488Glu
XM_011535645.2:c.23247C>G	XP_011533947.1:p.Asp7749Glu
XM_017010608.1:c.25479C>G	XP_016866097.1:p.Asp8493Glu
XM_017010609.1:c.25479C>G	XP_016866098.1:p.Asp8493Glu
XM_017010610.1:c.25458C>G	XP_016866099.1:p.Asp8486Glu
XM_017010611.2:c.25452C>G	XP_016866100.1:p.Asp8484Glu
XM_017010612.1:c.25401C>G	XP_016866101.1:p.Asp8467Glu
XM_017010613.1:c.25407C>G	XP_016866102.1:p.Asp8469Glu
XM_017010614.1:c.25323C>G	XP_016866103.1:p.Asp8441Glu
XM_017010615.1:c.25254C>G	XP_016866104.1:p.Asp8418Glu
XM_017010616.1:c.25410C>G	XP_016866105.1:p.Asp8470Glu
XM_017010617.1:c.25407C>G	XP_016866106.1:p.Asp8469Glu
XM_017010618.1:c.25395C>G	XP_016866107.1:p.Asp8465Glu
XM_017010619.1:c.23754C>G	XP_016866108.1:p.Asp7918Glu
NM_182961.4:c.25374C>G MANE Select	NP_892006.3:p.Asp8458Glu
NM_001347701.2:c.1980C>G	NP_001334630.1:p.Asp660Glu
NM_001347702.2:c.1908C>G MANE Plus Clinical	NP_001334631.1:p.Asp636Glu
NM_033071.5:c.25230C>G	NP_149062.2:p.Asp8410Glu