Canonical Allele Identifier: CA366080026

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461114T>A (hg19) ; chr6:g.152139979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139979T>A , CM000668.2:g.152139979T>A	GRCh38
NC_000006.11:g.152461114T>A , CM000668.1:g.152461114T>A	GRCh37
NC_000006.10:g.152502807T>A	NCBI36
NG_012855.1:g.502421A>T
NG_012855.2:g.502421A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1963A>T MANE Plus Clinical	ENSP00000346701.4:p.Thr655Ser
ENST00000367255.10:c.25429A>T MANE Select	ENSP00000356224.5:p.Thr8477Ser
ENST00000423061.6:c.25285A>T	ENSP00000396024.1:p.Thr8429Ser
ENST00000672154.1:c.831A>T
ENST00000672169.1:c.1164A>T
ENST00000673173.1:c.1073A>T
ENST00000673451.1:c.1201A>T	ENSP00000500189.1:p.Thr401Ser
ENST00000341594.9:c.24214A>T	ENSP00000341887.6:p.Thr8072Ser
ENST00000347037.9:n.2177A>T
ENST00000354674.4:c.1963A>T	ENSP00000346701.4:p.Thr655Ser
ENST00000367251.7:c.4264A>T	ENSP00000356220.3:p.Thr1422Ser
ENST00000367255.9:c.25429A>T	ENSP00000356224.5:p.Thr8477Ser
ENST00000367256.9:n.9121A>T
ENST00000367257.8:c.3367A>T	ENSP00000356226.4:p.Thr1123Ser
ENST00000409694.6:n.9013A>T
ENST00000423061.5:c.25285A>T	ENSP00000396024.1:p.Thr8429Ser
ENST00000460912.6:n.2043A>T
ENST00000478916.5:n.4451A>T
ENST00000536990.5:n.2266A>T
ENST00000539504.5:c.1894A>T	ENSP00000441052.1:p.Thr632Ser
NM_033071.3:c.25285A>T	NP_149062.1:p.Thr8429Ser
NM_182961.3:c.25429A>T	NP_892006.3:p.Thr8477Ser
XM_006715407.1:c.25534A>T	XP_006715470.1:p.Thr8512Ser
XM_006715408.1:c.25522A>T	XP_006715471.1:p.Thr8508Ser
XM_006715409.1:c.25513A>T	XP_006715472.1:p.Thr8505Ser
XM_006715410.1:c.25534A>T	XP_006715473.1:p.Thr8512Ser
XM_006715411.1:c.25483A>T	XP_006715474.1:p.Thr8495Ser
XM_006715412.1:c.25519A>T	XP_006715475.1:p.Thr8507Ser
XM_006715413.1:c.25465A>T	XP_006715476.1:p.Thr8489Ser
XM_006715414.1:c.25462A>T	XP_006715477.1:p.Thr8488Ser
XM_006715415.1:c.25465A>T	XP_006715478.1:p.Thr8489Ser
XM_006715416.1:c.25450A>T	XP_006715479.1:p.Thr8484Ser
XM_006715417.1:c.25393A>T	XP_006715480.1:p.Thr8465Ser
XM_006715420.1:c.25381A>T	XP_006715483.1:p.Thr8461Ser
XM_006715421.1:c.25378A>T	XP_006715484.1:p.Thr8460Ser
XM_006715422.1:c.25375A>T	XP_006715485.1:p.Thr8459Ser
XM_006715423.1:c.25534A>T	XP_006715486.1:p.Thr8512Ser
XM_006715424.1:c.25534A>T	XP_006715487.1:p.Thr8512Ser
XM_006715425.1:c.25465A>T	XP_006715488.1:p.Thr8489Ser
XM_011535641.1:c.25531A>T	XP_011533943.1:p.Thr8511Ser
XM_011535642.1:c.25519A>T	XP_011533944.1:p.Thr8507Ser
XM_011535643.1:c.25369A>T	XP_011533945.1:p.Thr8457Ser
XM_011535644.1:c.23809A>T	XP_011533946.1:p.Thr7937Ser
XM_011535645.1:c.23302A>T	XP_011533947.1:p.Thr7768Ser
XM_011535647.1:c.18769A>T	XP_011533949.1:p.Thr6257Ser
NM_001347701.1:c.2035A>T	NP_001334630.1:p.Thr679Ser
NM_001347702.1:c.1963A>T	NP_001334631.1:p.Thr655Ser
XM_006715408.2:c.25522A>T	XP_006715471.1:p.Thr8508Ser
XM_006715410.2:c.25534A>T	XP_006715473.1:p.Thr8512Ser
XM_006715412.2:c.25519A>T	XP_006715475.1:p.Thr8507Ser
XM_006715413.2:c.25465A>T	XP_006715476.1:p.Thr8489Ser
XM_006715415.2:c.25465A>T	XP_006715478.1:p.Thr8489Ser
XM_006715416.2:c.25450A>T	XP_006715479.1:p.Thr8484Ser
XM_006715417.2:c.25393A>T	XP_006715480.1:p.Thr8465Ser
XM_006715420.2:c.25381A>T	XP_006715483.1:p.Thr8461Ser
XM_006715421.2:c.25378A>T	XP_006715484.1:p.Thr8460Ser
XM_006715423.2:c.25534A>T	XP_006715486.1:p.Thr8512Ser
XM_006715424.2:c.25534A>T	XP_006715487.1:p.Thr8512Ser
XM_006715425.2:c.25465A>T	XP_006715488.1:p.Thr8489Ser
XM_011535641.2:c.25531A>T	XP_011533943.1:p.Thr8511Ser
XM_011535642.2:c.25519A>T	XP_011533944.1:p.Thr8507Ser
XM_011535645.2:c.23302A>T	XP_011533947.1:p.Thr7768Ser
XM_017010608.1:c.25534A>T	XP_016866097.1:p.Thr8512Ser
XM_017010609.1:c.25534A>T	XP_016866098.1:p.Thr8512Ser
XM_017010610.1:c.25513A>T	XP_016866099.1:p.Thr8505Ser
XM_017010611.2:c.25507A>T	XP_016866100.1:p.Thr8503Ser
XM_017010612.1:c.25456A>T	XP_016866101.1:p.Thr8486Ser
XM_017010613.1:c.25462A>T	XP_016866102.1:p.Thr8488Ser
XM_017010614.1:c.25378A>T	XP_016866103.1:p.Thr8460Ser
XM_017010615.1:c.25309A>T	XP_016866104.1:p.Thr8437Ser
XM_017010616.1:c.25465A>T	XP_016866105.1:p.Thr8489Ser
XM_017010617.1:c.25462A>T	XP_016866106.1:p.Thr8488Ser
XM_017010618.1:c.25450A>T	XP_016866107.1:p.Thr8484Ser
XM_017010619.1:c.23809A>T	XP_016866108.1:p.Thr7937Ser
NM_182961.4:c.25429A>T MANE Select	NP_892006.3:p.Thr8477Ser
NM_001347701.2:c.2035A>T	NP_001334630.1:p.Thr679Ser
NM_001347702.2:c.1963A>T MANE Plus Clinical	NP_001334631.1:p.Thr655Ser
NM_033071.5:c.25285A>T	NP_149062.2:p.Thr8429Ser