Canonical Allele Identifier: CA452748516

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152154907T>C , CM000668.2:g.152154907T>C	GRCh38
NC_000006.11:g.152476042T>C , CM000668.1:g.152476042T>C	GRCh37
NC_000006.10:g.152517735T>C	NCBI36
NG_012855.1:g.487493A>G
NG_012855.2:g.487493A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.24114A>G MANE Select	NP_892006.3:p.Glu8038=
ENST00000367255.10:c.24114A>G MANE Select	ENSP00000356224.5:p.Glu8038=
NM_001347702.2:c.579A>G MANE Plus Clinical	NP_001334631.1:p.Glu193=
ENST00000354674.5:c.579A>G MANE Plus Clinical	ENSP00000346701.4:p.Glu193=
NM_001347701.1:c.720A>G	NP_001334630.1:p.Glu240=
NM_001347701.2:c.720A>G	NP_001334630.1:p.Glu240=
NM_001347702.1:c.579A>G	NP_001334631.1:p.Glu193=
NM_033071.3:c.23901A>G	NP_149062.1:p.Glu7967=
NM_033071.5:c.23901A>G	NP_149062.2:p.Glu7967=
NM_182961.3:c.24114A>G	NP_892006.3:p.Glu8038=
ENST00000341594.9:c.22899A>G	ENSP00000341887.6:p.Glu7633=
ENST00000347037.9:n.793A>G
ENST00000354674.4:c.579A>G	ENSP00000346701.4:p.Glu193=
ENST00000367251.7:c.2880A>G	ENSP00000356220.3:p.Glu960=
ENST00000367255.9:c.24114A>G	ENSP00000356224.5:p.Glu8038=
ENST00000367256.9:n.7806A>G
ENST00000367257.8:c.2052A>G	ENSP00000356226.4:p.Glu684=
ENST00000409694.6:n.7698A>G
ENST00000423061.5:c.23901A>G	ENSP00000396024.1:p.Glu7967=
ENST00000423061.6:c.23901A>G	ENSP00000396024.1:p.Glu7967=
ENST00000460912.6:n.659A>G
ENST00000476519.1:n.176A>G
ENST00000490866.2:n.489A>G
ENST00000536990.5:n.951A>G
ENST00000539504.5:c.579A>G	ENSP00000441052.1:p.Glu193=
ENST00000673173.1:c.28A>G
XM_006715407.1:c.24150A>G	XP_006715470.1:p.Glu8050=
XM_006715408.1:c.24138A>G	XP_006715471.1:p.Glu8046=
XM_006715408.2:c.24138A>G	XP_006715471.1:p.Glu8046=
XM_006715409.1:c.24129A>G	XP_006715472.1:p.Glu8043=
XM_006715410.1:c.24150A>G	XP_006715473.1:p.Glu8050=
XM_006715410.2:c.24150A>G	XP_006715473.1:p.Glu8050=
XM_006715411.1:c.24099A>G	XP_006715474.1:p.Glu8033=
XM_006715412.1:c.24135A>G	XP_006715475.1:p.Glu8045=
XM_006715412.2:c.24135A>G	XP_006715475.1:p.Glu8045=
XM_006715413.1:c.24150A>G	XP_006715476.1:p.Glu8050=
XM_006715413.2:c.24150A>G	XP_006715476.1:p.Glu8050=
XM_006715414.1:c.24078A>G	XP_006715477.1:p.Glu8026=
XM_006715415.1:c.24150A>G	XP_006715478.1:p.Glu8050=
XM_006715415.2:c.24150A>G	XP_006715478.1:p.Glu8050=
XM_006715416.1:c.24135A>G	XP_006715479.1:p.Glu8045=
XM_006715416.2:c.24135A>G	XP_006715479.1:p.Glu8045=
XM_006715417.1:c.24009A>G	XP_006715480.1:p.Glu8003=
XM_006715417.2:c.24009A>G	XP_006715480.1:p.Glu8003=
XM_006715420.1:c.23997A>G	XP_006715483.1:p.Glu7999=
XM_006715420.2:c.23997A>G	XP_006715483.1:p.Glu7999=
XM_006715421.1:c.23994A>G	XP_006715484.1:p.Glu7998=
XM_006715421.2:c.23994A>G	XP_006715484.1:p.Glu7998=
XM_006715422.1:c.23991A>G	XP_006715485.1:p.Glu7997=
XM_006715423.1:c.24150A>G	XP_006715486.1:p.Glu8050=
XM_006715423.2:c.24150A>G	XP_006715486.1:p.Glu8050=
XM_006715424.1:c.24150A>G	XP_006715487.1:p.Glu8050=
XM_006715424.2:c.24150A>G	XP_006715487.1:p.Glu8050=
XM_006715425.1:c.24150A>G	XP_006715488.1:p.Glu8050=
XM_006715425.2:c.24150A>G	XP_006715488.1:p.Glu8050=
XM_011535641.1:c.24147A>G	XP_011533943.1:p.Glu8049=
XM_011535641.2:c.24147A>G	XP_011533943.1:p.Glu8049=
XM_011535642.1:c.24135A>G	XP_011533944.1:p.Glu8045=
XM_011535642.2:c.24135A>G	XP_011533944.1:p.Glu8045=
XM_011535643.1:c.23985A>G	XP_011533945.1:p.Glu7995=
XM_011535644.1:c.22425A>G	XP_011533946.1:p.Glu7475=
XM_011535645.1:c.21918A>G	XP_011533947.1:p.Glu7306=
XM_011535645.2:c.21918A>G	XP_011533947.1:p.Glu7306=
XM_011535647.1:c.17385A>G	XP_011533949.1:p.Glu5795=
XM_017010608.1:c.24150A>G	XP_016866097.1:p.Glu8050=
XM_017010609.1:c.24150A>G	XP_016866098.1:p.Glu8050=
XM_017010610.1:c.24129A>G	XP_016866099.1:p.Glu8043=
XM_017010611.2:c.24123A>G	XP_016866100.1:p.Glu8041=
XM_017010612.1:c.24072A>G	XP_016866101.1:p.Glu8024=
XM_017010613.1:c.24147A>G	XP_016866102.1:p.Glu8049=
XM_017010614.1:c.23994A>G	XP_016866103.1:p.Glu7998=
XM_017010615.1:c.23994A>G	XP_016866104.1:p.Glu7998=
XM_017010616.1:c.24150A>G	XP_016866105.1:p.Glu8050=
XM_017010617.1:c.24147A>G	XP_016866106.1:p.Glu8049=
XM_017010618.1:c.24135A>G	XP_016866107.1:p.Glu8045=
XM_017010619.1:c.22425A>G	XP_016866108.1:p.Glu7475=