Canonical Allele Identifier: CA452969841

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461145G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140010G>C , CM000668.2:g.152140010G>C	GRCh38
NC_000006.11:g.152461145G>C , CM000668.1:g.152461145G>C	GRCh37
NC_000006.10:g.152502838G>C	NCBI36
NG_012855.1:g.502390C>G
NG_012855.2:g.502390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1932C>G MANE Plus Clinical	ENSP00000346701.4:p.Leu644=
ENST00000367255.10:c.25398C>G MANE Select	ENSP00000356224.5:p.Leu8466=
ENST00000423061.6:c.25254C>G	ENSP00000396024.1:p.Leu8418=
ENST00000672154.1:c.800C>G
ENST00000672169.1:c.1133C>G
ENST00000673173.1:c.1042C>G
ENST00000673451.1:c.1170C>G	ENSP00000500189.1:p.Leu390=
ENST00000341594.9:c.24183C>G	ENSP00000341887.6:p.Leu8061=
ENST00000347037.9:n.2146C>G
ENST00000354674.4:c.1932C>G	ENSP00000346701.4:p.Leu644=
ENST00000367251.7:c.4233C>G	ENSP00000356220.3:p.Leu1411=
ENST00000367255.9:c.25398C>G	ENSP00000356224.5:p.Leu8466=
ENST00000367256.9:n.9090C>G
ENST00000367257.8:c.3336C>G	ENSP00000356226.4:p.Leu1112=
ENST00000409694.6:n.8982C>G
ENST00000423061.5:c.25254C>G	ENSP00000396024.1:p.Leu8418=
ENST00000460912.6:n.2012C>G
ENST00000478916.5:n.4420C>G
ENST00000536990.5:n.2235C>G
ENST00000539504.5:c.1863C>G	ENSP00000441052.1:p.Leu621=
NM_033071.3:c.25254C>G	NP_149062.1:p.Leu8418=
NM_182961.3:c.25398C>G	NP_892006.3:p.Leu8466=
XM_006715407.1:c.25503C>G	XP_006715470.1:p.Leu8501=
XM_006715408.1:c.25491C>G	XP_006715471.1:p.Leu8497=
XM_006715409.1:c.25482C>G	XP_006715472.1:p.Leu8494=
XM_006715410.1:c.25503C>G	XP_006715473.1:p.Leu8501=
XM_006715411.1:c.25452C>G	XP_006715474.1:p.Leu8484=
XM_006715412.1:c.25488C>G	XP_006715475.1:p.Leu8496=
XM_006715413.1:c.25434C>G	XP_006715476.1:p.Leu8478=
XM_006715414.1:c.25431C>G	XP_006715477.1:p.Leu8477=
XM_006715415.1:c.25434C>G	XP_006715478.1:p.Leu8478=
XM_006715416.1:c.25419C>G	XP_006715479.1:p.Leu8473=
XM_006715417.1:c.25362C>G	XP_006715480.1:p.Leu8454=
XM_006715420.1:c.25350C>G	XP_006715483.1:p.Leu8450=
XM_006715421.1:c.25347C>G	XP_006715484.1:p.Leu8449=
XM_006715422.1:c.25344C>G	XP_006715485.1:p.Leu8448=
XM_006715423.1:c.25503C>G	XP_006715486.1:p.Leu8501=
XM_006715424.1:c.25503C>G	XP_006715487.1:p.Leu8501=
XM_006715425.1:c.25434C>G	XP_006715488.1:p.Leu8478=
XM_011535641.1:c.25500C>G	XP_011533943.1:p.Leu8500=
XM_011535642.1:c.25488C>G	XP_011533944.1:p.Leu8496=
XM_011535643.1:c.25338C>G	XP_011533945.1:p.Leu8446=
XM_011535644.1:c.23778C>G	XP_011533946.1:p.Leu7926=
XM_011535645.1:c.23271C>G	XP_011533947.1:p.Leu7757=
XM_011535647.1:c.18738C>G	XP_011533949.1:p.Leu6246=
NM_001347701.1:c.2004C>G	NP_001334630.1:p.Leu668=
NM_001347702.1:c.1932C>G	NP_001334631.1:p.Leu644=
XM_006715408.2:c.25491C>G	XP_006715471.1:p.Leu8497=
XM_006715410.2:c.25503C>G	XP_006715473.1:p.Leu8501=
XM_006715412.2:c.25488C>G	XP_006715475.1:p.Leu8496=
XM_006715413.2:c.25434C>G	XP_006715476.1:p.Leu8478=
XM_006715415.2:c.25434C>G	XP_006715478.1:p.Leu8478=
XM_006715416.2:c.25419C>G	XP_006715479.1:p.Leu8473=
XM_006715417.2:c.25362C>G	XP_006715480.1:p.Leu8454=
XM_006715420.2:c.25350C>G	XP_006715483.1:p.Leu8450=
XM_006715421.2:c.25347C>G	XP_006715484.1:p.Leu8449=
XM_006715423.2:c.25503C>G	XP_006715486.1:p.Leu8501=
XM_006715424.2:c.25503C>G	XP_006715487.1:p.Leu8501=
XM_006715425.2:c.25434C>G	XP_006715488.1:p.Leu8478=
XM_011535641.2:c.25500C>G	XP_011533943.1:p.Leu8500=
XM_011535642.2:c.25488C>G	XP_011533944.1:p.Leu8496=
XM_011535645.2:c.23271C>G	XP_011533947.1:p.Leu7757=
XM_017010608.1:c.25503C>G	XP_016866097.1:p.Leu8501=
XM_017010609.1:c.25503C>G	XP_016866098.1:p.Leu8501=
XM_017010610.1:c.25482C>G	XP_016866099.1:p.Leu8494=
XM_017010611.2:c.25476C>G	XP_016866100.1:p.Leu8492=
XM_017010612.1:c.25425C>G	XP_016866101.1:p.Leu8475=
XM_017010613.1:c.25431C>G	XP_016866102.1:p.Leu8477=
XM_017010614.1:c.25347C>G	XP_016866103.1:p.Leu8449=
XM_017010615.1:c.25278C>G	XP_016866104.1:p.Leu8426=
XM_017010616.1:c.25434C>G	XP_016866105.1:p.Leu8478=
XM_017010617.1:c.25431C>G	XP_016866106.1:p.Leu8477=
XM_017010618.1:c.25419C>G	XP_016866107.1:p.Leu8473=
XM_017010619.1:c.23778C>G	XP_016866108.1:p.Leu7926=
NM_182961.4:c.25398C>G MANE Select	NP_892006.3:p.Leu8466=
NM_001347701.2:c.2004C>G	NP_001334630.1:p.Leu668=
NM_001347702.2:c.1932C>G MANE Plus Clinical	NP_001334631.1:p.Leu644=
NM_033071.5:c.25254C>G	NP_149062.2:p.Leu8418=