Canonical Allele Identifier: CA452969796

Gene: SYNE1

Linked Data

• COSMIC: COSM1311674 ; COSM1311675 ; COSM1311676 ; COSM4812777 ; COSM4812778
• MyVariant Identifiers: chr6:g.152461088G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139953G>C , CM000668.2:g.152139953G>C	GRCh38
NC_000006.11:g.152461088G>C , CM000668.1:g.152461088G>C	GRCh37
NC_000006.10:g.152502781G>C	NCBI36
NG_012855.1:g.502447C>G
NG_012855.2:g.502447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1989C>G MANE Plus Clinical	ENSP00000346701.4:p.Leu663=
ENST00000367255.10:c.25455C>G MANE Select	ENSP00000356224.5:p.Leu8485=
ENST00000423061.6:c.25311C>G	ENSP00000396024.1:p.Leu8437=
ENST00000672154.1:c.857C>G
ENST00000672169.1:c.1190C>G
ENST00000673173.1:c.1099C>G
ENST00000673451.1:c.1227C>G	ENSP00000500189.1:p.Leu409=
ENST00000341594.9:c.24240C>G	ENSP00000341887.6:p.Leu8080=
ENST00000347037.9:n.2203C>G
ENST00000354674.4:c.1989C>G	ENSP00000346701.4:p.Leu663=
ENST00000367251.7:c.4290C>G	ENSP00000356220.3:p.Leu1430=
ENST00000367255.9:c.25455C>G	ENSP00000356224.5:p.Leu8485=
ENST00000367256.9:n.9147C>G
ENST00000367257.8:c.3393C>G	ENSP00000356226.4:p.Leu1131=
ENST00000409694.6:n.9039C>G
ENST00000423061.5:c.25311C>G	ENSP00000396024.1:p.Leu8437=
ENST00000460912.6:n.2069C>G
ENST00000478916.5:n.4477C>G
ENST00000536990.5:n.2292C>G
ENST00000539504.5:c.1920C>G	ENSP00000441052.1:p.Leu640=
NM_033071.3:c.25311C>G	NP_149062.1:p.Leu8437=
NM_182961.3:c.25455C>G	NP_892006.3:p.Leu8485=
XM_006715407.1:c.25560C>G	XP_006715470.1:p.Leu8520=
XM_006715408.1:c.25548C>G	XP_006715471.1:p.Leu8516=
XM_006715409.1:c.25539C>G	XP_006715472.1:p.Leu8513=
XM_006715410.1:c.25560C>G	XP_006715473.1:p.Leu8520=
XM_006715411.1:c.25509C>G	XP_006715474.1:p.Leu8503=
XM_006715412.1:c.25545C>G	XP_006715475.1:p.Leu8515=
XM_006715413.1:c.25491C>G	XP_006715476.1:p.Leu8497=
XM_006715414.1:c.25488C>G	XP_006715477.1:p.Leu8496=
XM_006715415.1:c.25491C>G	XP_006715478.1:p.Leu8497=
XM_006715416.1:c.25476C>G	XP_006715479.1:p.Leu8492=
XM_006715417.1:c.25419C>G	XP_006715480.1:p.Leu8473=
XM_006715420.1:c.25407C>G	XP_006715483.1:p.Leu8469=
XM_006715421.1:c.25404C>G	XP_006715484.1:p.Leu8468=
XM_006715422.1:c.25401C>G	XP_006715485.1:p.Leu8467=
XM_006715423.1:c.25560C>G	XP_006715486.1:p.Leu8520=
XM_006715424.1:c.25560C>G	XP_006715487.1:p.Leu8520=
XM_006715425.1:c.25491C>G	XP_006715488.1:p.Leu8497=
XM_011535641.1:c.25557C>G	XP_011533943.1:p.Leu8519=
XM_011535642.1:c.25545C>G	XP_011533944.1:p.Leu8515=
XM_011535643.1:c.25395C>G	XP_011533945.1:p.Leu8465=
XM_011535644.1:c.23835C>G	XP_011533946.1:p.Leu7945=
XM_011535645.1:c.23328C>G	XP_011533947.1:p.Leu7776=
XM_011535647.1:c.18795C>G	XP_011533949.1:p.Leu6265=
NM_001347701.1:c.2061C>G	NP_001334630.1:p.Leu687=
NM_001347702.1:c.1989C>G	NP_001334631.1:p.Leu663=
XM_006715408.2:c.25548C>G	XP_006715471.1:p.Leu8516=
XM_006715410.2:c.25560C>G	XP_006715473.1:p.Leu8520=
XM_006715412.2:c.25545C>G	XP_006715475.1:p.Leu8515=
XM_006715413.2:c.25491C>G	XP_006715476.1:p.Leu8497=
XM_006715415.2:c.25491C>G	XP_006715478.1:p.Leu8497=
XM_006715416.2:c.25476C>G	XP_006715479.1:p.Leu8492=
XM_006715417.2:c.25419C>G	XP_006715480.1:p.Leu8473=
XM_006715420.2:c.25407C>G	XP_006715483.1:p.Leu8469=
XM_006715421.2:c.25404C>G	XP_006715484.1:p.Leu8468=
XM_006715423.2:c.25560C>G	XP_006715486.1:p.Leu8520=
XM_006715424.2:c.25560C>G	XP_006715487.1:p.Leu8520=
XM_006715425.2:c.25491C>G	XP_006715488.1:p.Leu8497=
XM_011535641.2:c.25557C>G	XP_011533943.1:p.Leu8519=
XM_011535642.2:c.25545C>G	XP_011533944.1:p.Leu8515=
XM_011535645.2:c.23328C>G	XP_011533947.1:p.Leu7776=
XM_017010608.1:c.25560C>G	XP_016866097.1:p.Leu8520=
XM_017010609.1:c.25560C>G	XP_016866098.1:p.Leu8520=
XM_017010610.1:c.25539C>G	XP_016866099.1:p.Leu8513=
XM_017010611.2:c.25533C>G	XP_016866100.1:p.Leu8511=
XM_017010612.1:c.25482C>G	XP_016866101.1:p.Leu8494=
XM_017010613.1:c.25488C>G	XP_016866102.1:p.Leu8496=
XM_017010614.1:c.25404C>G	XP_016866103.1:p.Leu8468=
XM_017010615.1:c.25335C>G	XP_016866104.1:p.Leu8445=
XM_017010616.1:c.25491C>G	XP_016866105.1:p.Leu8497=
XM_017010617.1:c.25488C>G	XP_016866106.1:p.Leu8496=
XM_017010618.1:c.25476C>G	XP_016866107.1:p.Leu8492=
XM_017010619.1:c.23835C>G	XP_016866108.1:p.Leu7945=
NM_182961.4:c.25455C>G MANE Select	NP_892006.3:p.Leu8485=
NM_001347701.2:c.2061C>G	NP_001334630.1:p.Leu687=
NM_001347702.2:c.1989C>G MANE Plus Clinical	NP_001334631.1:p.Leu663=
NM_033071.5:c.25311C>G	NP_149062.2:p.Leu8437=