Canonical Allele Identifier: CA366080492

Gene: SYNE1

Linked Data

• dbSNP Id: rs1585945554
• MyVariant Identifiers: chr6:g.152461210A>C (hg19) ; chr6:g.152140075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140075A>C , CM000668.2:g.152140075A>C	GRCh38
NC_000006.11:g.152461210A>C , CM000668.1:g.152461210A>C	GRCh37
NC_000006.10:g.152502903A>C	NCBI36
NG_012855.1:g.502325T>G
NG_012855.2:g.502325T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1867T>G MANE Plus Clinical	ENSP00000346701.4:p.Phe623Val
ENST00000367255.10:c.25333T>G MANE Select	ENSP00000356224.5:p.Phe8445Val
ENST00000423061.6:c.25189T>G	ENSP00000396024.1:p.Phe8397Val
ENST00000672154.1:c.735T>G
ENST00000672169.1:c.1068T>G
ENST00000673173.1:c.977T>G
ENST00000673451.1:c.1105T>G	ENSP00000500189.1:p.Phe369Val
ENST00000341594.9:c.24118T>G	ENSP00000341887.6:p.Phe8040Val
ENST00000347037.9:n.2081T>G
ENST00000354674.4:c.1867T>G	ENSP00000346701.4:p.Phe623Val
ENST00000367251.7:c.4168T>G	ENSP00000356220.3:p.Phe1390Val
ENST00000367255.9:c.25333T>G	ENSP00000356224.5:p.Phe8445Val
ENST00000367256.9:n.9025T>G
ENST00000367257.8:c.3271T>G	ENSP00000356226.4:p.Phe1091Val
ENST00000409694.6:n.8917T>G
ENST00000423061.5:c.25189T>G	ENSP00000396024.1:p.Phe8397Val
ENST00000460912.6:n.1947T>G
ENST00000478916.5:n.4355T>G
ENST00000536990.5:n.2170T>G
ENST00000539504.5:c.1798T>G	ENSP00000441052.1:p.Phe600Val
NM_033071.3:c.25189T>G	NP_149062.1:p.Phe8397Val
NM_182961.3:c.25333T>G	NP_892006.3:p.Phe8445Val
XM_006715407.1:c.25438T>G	XP_006715470.1:p.Phe8480Val
XM_006715408.1:c.25426T>G	XP_006715471.1:p.Phe8476Val
XM_006715409.1:c.25417T>G	XP_006715472.1:p.Phe8473Val
XM_006715410.1:c.25438T>G	XP_006715473.1:p.Phe8480Val
XM_006715411.1:c.25387T>G	XP_006715474.1:p.Phe8463Val
XM_006715412.1:c.25423T>G	XP_006715475.1:p.Phe8475Val
XM_006715413.1:c.25369T>G	XP_006715476.1:p.Phe8457Val
XM_006715414.1:c.25366T>G	XP_006715477.1:p.Phe8456Val
XM_006715415.1:c.25369T>G	XP_006715478.1:p.Phe8457Val
XM_006715416.1:c.25354T>G	XP_006715479.1:p.Phe8452Val
XM_006715417.1:c.25297T>G	XP_006715480.1:p.Phe8433Val
XM_006715420.1:c.25285T>G	XP_006715483.1:p.Phe8429Val
XM_006715421.1:c.25282T>G	XP_006715484.1:p.Phe8428Val
XM_006715422.1:c.25279T>G	XP_006715485.1:p.Phe8427Val
XM_006715423.1:c.25438T>G	XP_006715486.1:p.Phe8480Val
XM_006715424.1:c.25438T>G	XP_006715487.1:p.Phe8480Val
XM_006715425.1:c.25369T>G	XP_006715488.1:p.Phe8457Val
XM_011535641.1:c.25435T>G	XP_011533943.1:p.Phe8479Val
XM_011535642.1:c.25423T>G	XP_011533944.1:p.Phe8475Val
XM_011535643.1:c.25273T>G	XP_011533945.1:p.Phe8425Val
XM_011535644.1:c.23713T>G	XP_011533946.1:p.Phe7905Val
XM_011535645.1:c.23206T>G	XP_011533947.1:p.Phe7736Val
XM_011535647.1:c.18673T>G	XP_011533949.1:p.Phe6225Val
NM_001347701.1:c.1939T>G	NP_001334630.1:p.Phe647Val
NM_001347702.1:c.1867T>G	NP_001334631.1:p.Phe623Val
XM_006715408.2:c.25426T>G	XP_006715471.1:p.Phe8476Val
XM_006715410.2:c.25438T>G	XP_006715473.1:p.Phe8480Val
XM_006715412.2:c.25423T>G	XP_006715475.1:p.Phe8475Val
XM_006715413.2:c.25369T>G	XP_006715476.1:p.Phe8457Val
XM_006715415.2:c.25369T>G	XP_006715478.1:p.Phe8457Val
XM_006715416.2:c.25354T>G	XP_006715479.1:p.Phe8452Val
XM_006715417.2:c.25297T>G	XP_006715480.1:p.Phe8433Val
XM_006715420.2:c.25285T>G	XP_006715483.1:p.Phe8429Val
XM_006715421.2:c.25282T>G	XP_006715484.1:p.Phe8428Val
XM_006715423.2:c.25438T>G	XP_006715486.1:p.Phe8480Val
XM_006715424.2:c.25438T>G	XP_006715487.1:p.Phe8480Val
XM_006715425.2:c.25369T>G	XP_006715488.1:p.Phe8457Val
XM_011535641.2:c.25435T>G	XP_011533943.1:p.Phe8479Val
XM_011535642.2:c.25423T>G	XP_011533944.1:p.Phe8475Val
XM_011535645.2:c.23206T>G	XP_011533947.1:p.Phe7736Val
XM_017010608.1:c.25438T>G	XP_016866097.1:p.Phe8480Val
XM_017010609.1:c.25438T>G	XP_016866098.1:p.Phe8480Val
XM_017010610.1:c.25417T>G	XP_016866099.1:p.Phe8473Val
XM_017010611.2:c.25411T>G	XP_016866100.1:p.Phe8471Val
XM_017010612.1:c.25360T>G	XP_016866101.1:p.Phe8454Val
XM_017010613.1:c.25366T>G	XP_016866102.1:p.Phe8456Val
XM_017010614.1:c.25282T>G	XP_016866103.1:p.Phe8428Val
XM_017010615.1:c.25213T>G	XP_016866104.1:p.Phe8405Val
XM_017010616.1:c.25369T>G	XP_016866105.1:p.Phe8457Val
XM_017010617.1:c.25366T>G	XP_016866106.1:p.Phe8456Val
XM_017010618.1:c.25354T>G	XP_016866107.1:p.Phe8452Val
XM_017010619.1:c.23713T>G	XP_016866108.1:p.Phe7905Val
NM_182961.4:c.25333T>G MANE Select	NP_892006.3:p.Phe8445Val
NM_001347701.2:c.1939T>G	NP_001334630.1:p.Phe647Val
NM_001347702.2:c.1867T>G MANE Plus Clinical	NP_001334631.1:p.Phe623Val
NM_033071.5:c.25189T>G	NP_149062.2:p.Phe8397Val