Canonical Allele Identifier: CA366080251

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461170T>A (hg19) ; chr6:g.152140035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140035T>A , CM000668.2:g.152140035T>A	GRCh38
NC_000006.11:g.152461170T>A , CM000668.1:g.152461170T>A	GRCh37
NC_000006.10:g.152502863T>A	NCBI36
NG_012855.1:g.502365A>T
NG_012855.2:g.502365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1907A>T MANE Plus Clinical	ENSP00000346701.4:p.Asp636Val
ENST00000367255.10:c.25373A>T MANE Select	ENSP00000356224.5:p.Asp8458Val
ENST00000423061.6:c.25229A>T	ENSP00000396024.1:p.Asp8410Val
ENST00000672154.1:c.775A>T
ENST00000672169.1:c.1108A>T
ENST00000673173.1:c.1017A>T
ENST00000673451.1:c.1145A>T	ENSP00000500189.1:p.Asp382Val
ENST00000341594.9:c.24158A>T	ENSP00000341887.6:p.Asp8053Val
ENST00000347037.9:n.2121A>T
ENST00000354674.4:c.1907A>T	ENSP00000346701.4:p.Asp636Val
ENST00000367251.7:c.4208A>T	ENSP00000356220.3:p.Asp1403Val
ENST00000367255.9:c.25373A>T	ENSP00000356224.5:p.Asp8458Val
ENST00000367256.9:n.9065A>T
ENST00000367257.8:c.3311A>T	ENSP00000356226.4:p.Asp1104Val
ENST00000409694.6:n.8957A>T
ENST00000423061.5:c.25229A>T	ENSP00000396024.1:p.Asp8410Val
ENST00000460912.6:n.1987A>T
ENST00000478916.5:n.4395A>T
ENST00000536990.5:n.2210A>T
ENST00000539504.5:c.1838A>T	ENSP00000441052.1:p.Asp613Val
NM_033071.3:c.25229A>T	NP_149062.1:p.Asp8410Val
NM_182961.3:c.25373A>T	NP_892006.3:p.Asp8458Val
XM_006715407.1:c.25478A>T	XP_006715470.1:p.Asp8493Val
XM_006715408.1:c.25466A>T	XP_006715471.1:p.Asp8489Val
XM_006715409.1:c.25457A>T	XP_006715472.1:p.Asp8486Val
XM_006715410.1:c.25478A>T	XP_006715473.1:p.Asp8493Val
XM_006715411.1:c.25427A>T	XP_006715474.1:p.Asp8476Val
XM_006715412.1:c.25463A>T	XP_006715475.1:p.Asp8488Val
XM_006715413.1:c.25409A>T	XP_006715476.1:p.Asp8470Val
XM_006715414.1:c.25406A>T	XP_006715477.1:p.Asp8469Val
XM_006715415.1:c.25409A>T	XP_006715478.1:p.Asp8470Val
XM_006715416.1:c.25394A>T	XP_006715479.1:p.Asp8465Val
XM_006715417.1:c.25337A>T	XP_006715480.1:p.Asp8446Val
XM_006715420.1:c.25325A>T	XP_006715483.1:p.Asp8442Val
XM_006715421.1:c.25322A>T	XP_006715484.1:p.Asp8441Val
XM_006715422.1:c.25319A>T	XP_006715485.1:p.Asp8440Val
XM_006715423.1:c.25478A>T	XP_006715486.1:p.Asp8493Val
XM_006715424.1:c.25478A>T	XP_006715487.1:p.Asp8493Val
XM_006715425.1:c.25409A>T	XP_006715488.1:p.Asp8470Val
XM_011535641.1:c.25475A>T	XP_011533943.1:p.Asp8492Val
XM_011535642.1:c.25463A>T	XP_011533944.1:p.Asp8488Val
XM_011535643.1:c.25313A>T	XP_011533945.1:p.Asp8438Val
XM_011535644.1:c.23753A>T	XP_011533946.1:p.Asp7918Val
XM_011535645.1:c.23246A>T	XP_011533947.1:p.Asp7749Val
XM_011535647.1:c.18713A>T	XP_011533949.1:p.Asp6238Val
NM_001347701.1:c.1979A>T	NP_001334630.1:p.Asp660Val
NM_001347702.1:c.1907A>T	NP_001334631.1:p.Asp636Val
XM_006715408.2:c.25466A>T	XP_006715471.1:p.Asp8489Val
XM_006715410.2:c.25478A>T	XP_006715473.1:p.Asp8493Val
XM_006715412.2:c.25463A>T	XP_006715475.1:p.Asp8488Val
XM_006715413.2:c.25409A>T	XP_006715476.1:p.Asp8470Val
XM_006715415.2:c.25409A>T	XP_006715478.1:p.Asp8470Val
XM_006715416.2:c.25394A>T	XP_006715479.1:p.Asp8465Val
XM_006715417.2:c.25337A>T	XP_006715480.1:p.Asp8446Val
XM_006715420.2:c.25325A>T	XP_006715483.1:p.Asp8442Val
XM_006715421.2:c.25322A>T	XP_006715484.1:p.Asp8441Val
XM_006715423.2:c.25478A>T	XP_006715486.1:p.Asp8493Val
XM_006715424.2:c.25478A>T	XP_006715487.1:p.Asp8493Val
XM_006715425.2:c.25409A>T	XP_006715488.1:p.Asp8470Val
XM_011535641.2:c.25475A>T	XP_011533943.1:p.Asp8492Val
XM_011535642.2:c.25463A>T	XP_011533944.1:p.Asp8488Val
XM_011535645.2:c.23246A>T	XP_011533947.1:p.Asp7749Val
XM_017010608.1:c.25478A>T	XP_016866097.1:p.Asp8493Val
XM_017010609.1:c.25478A>T	XP_016866098.1:p.Asp8493Val
XM_017010610.1:c.25457A>T	XP_016866099.1:p.Asp8486Val
XM_017010611.2:c.25451A>T	XP_016866100.1:p.Asp8484Val
XM_017010612.1:c.25400A>T	XP_016866101.1:p.Asp8467Val
XM_017010613.1:c.25406A>T	XP_016866102.1:p.Asp8469Val
XM_017010614.1:c.25322A>T	XP_016866103.1:p.Asp8441Val
XM_017010615.1:c.25253A>T	XP_016866104.1:p.Asp8418Val
XM_017010616.1:c.25409A>T	XP_016866105.1:p.Asp8470Val
XM_017010617.1:c.25406A>T	XP_016866106.1:p.Asp8469Val
XM_017010618.1:c.25394A>T	XP_016866107.1:p.Asp8465Val
XM_017010619.1:c.23753A>T	XP_016866108.1:p.Asp7918Val
NM_182961.4:c.25373A>T MANE Select	NP_892006.3:p.Asp8458Val
NM_001347701.2:c.1979A>T	NP_001334630.1:p.Asp660Val
NM_001347702.2:c.1907A>T MANE Plus Clinical	NP_001334631.1:p.Asp636Val
NM_033071.5:c.25229A>T	NP_149062.2:p.Asp8410Val