Canonical Allele Identifier: CA4052810

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152136788C>T , CM000668.2:g.152136788C>T	GRCh38
NC_000006.11:g.152457923C>T , CM000668.1:g.152457923C>T	GRCh37
NC_000006.10:g.152499616C>T	NCBI36
NG_012855.1:g.505612G>A
NG_012855.2:g.505612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2023G>A MANE Plus Clinical	ENSP00000346701.4:p.Ala675Thr
ENST00000367255.10:c.25489G>A MANE Select	ENSP00000356224.5:p.Ala8497Thr
ENST00000423061.6:c.25345G>A	ENSP00000396024.1:p.Ala8449Thr
ENST00000672154.1:c.891G>A
ENST00000672169.1:c.1224G>A
ENST00000673173.1:c.1133G>A
ENST00000673451.1:c.1261G>A	ENSP00000500189.1:p.Ala421Thr
ENST00000341594.9:c.24274G>A	ENSP00000341887.6:p.Ala8092Thr
ENST00000347037.9:n.2237G>A
ENST00000354674.4:c.2023G>A	ENSP00000346701.4:p.Ala675Thr
ENST00000367251.7:c.4324G>A	ENSP00000356220.3:p.Ala1442Thr
ENST00000367255.9:c.25489G>A	ENSP00000356224.5:p.Ala8497Thr
ENST00000367256.9:n.9181G>A
ENST00000367257.8:c.3427G>A	ENSP00000356226.4:p.Ala1143Thr
ENST00000409694.6:n.9073G>A
ENST00000423061.5:c.25345G>A	ENSP00000396024.1:p.Ala8449Thr
ENST00000460912.6:n.2103G>A
ENST00000478916.5:n.4511G>A
ENST00000536990.5:n.2326G>A
ENST00000539504.5:c.1954G>A	ENSP00000441052.1:p.Ala652Thr
NM_033071.3:c.25345G>A	NP_149062.1:p.Ala8449Thr
NM_182961.3:c.25489G>A	NP_892006.3:p.Ala8497Thr
XM_006715407.1:c.25594G>A	XP_006715470.1:p.Ala8532Thr
XM_006715408.1:c.25582G>A	XP_006715471.1:p.Ala8528Thr
XM_006715409.1:c.25573G>A	XP_006715472.1:p.Ala8525Thr
XM_006715410.1:c.25594G>A	XP_006715473.1:p.Ala8532Thr
XM_006715411.1:c.25543G>A	XP_006715474.1:p.Ala8515Thr
XM_006715412.1:c.25579G>A	XP_006715475.1:p.Ala8527Thr
XM_006715413.1:c.25525G>A	XP_006715476.1:p.Ala8509Thr
XM_006715414.1:c.25522G>A	XP_006715477.1:p.Ala8508Thr
XM_006715415.1:c.25525G>A	XP_006715478.1:p.Ala8509Thr
XM_006715416.1:c.25510G>A	XP_006715479.1:p.Ala8504Thr
XM_006715417.1:c.25453G>A	XP_006715480.1:p.Ala8485Thr
XM_006715420.1:c.25441G>A	XP_006715483.1:p.Ala8481Thr
XM_006715421.1:c.25438G>A	XP_006715484.1:p.Ala8480Thr
XM_006715422.1:c.25435G>A	XP_006715485.1:p.Ala8479Thr
XM_006715423.1:c.25594G>A	XP_006715486.1:p.Ala8532Thr
XM_006715424.1:c.25594G>A	XP_006715487.1:p.Ala8532Thr
XM_006715425.1:c.25525G>A	XP_006715488.1:p.Ala8509Thr
XM_011535641.1:c.25591G>A	XP_011533943.1:p.Ala8531Thr
XM_011535642.1:c.25579G>A	XP_011533944.1:p.Ala8527Thr
XM_011535643.1:c.25429G>A	XP_011533945.1:p.Ala8477Thr
XM_011535644.1:c.23869G>A	XP_011533946.1:p.Ala7957Thr
XM_011535645.1:c.23362G>A	XP_011533947.1:p.Ala7788Thr
XM_011535647.1:c.18829G>A	XP_011533949.1:p.Ala6277Thr
NM_001347701.1:c.2095G>A	NP_001334630.1:p.Ala699Thr
NM_001347702.1:c.2023G>A	NP_001334631.1:p.Ala675Thr
XM_006715408.2:c.25582G>A	XP_006715471.1:p.Ala8528Thr
XM_006715410.2:c.25594G>A	XP_006715473.1:p.Ala8532Thr
XM_006715412.2:c.25579G>A	XP_006715475.1:p.Ala8527Thr
XM_006715413.2:c.25525G>A	XP_006715476.1:p.Ala8509Thr
XM_006715415.2:c.25525G>A	XP_006715478.1:p.Ala8509Thr
XM_006715416.2:c.25510G>A	XP_006715479.1:p.Ala8504Thr
XM_006715417.2:c.25453G>A	XP_006715480.1:p.Ala8485Thr
XM_006715420.2:c.25441G>A	XP_006715483.1:p.Ala8481Thr
XM_006715421.2:c.25438G>A	XP_006715484.1:p.Ala8480Thr
XM_006715423.2:c.25594G>A	XP_006715486.1:p.Ala8532Thr
XM_006715424.2:c.25594G>A	XP_006715487.1:p.Ala8532Thr
XM_006715425.2:c.25525G>A	XP_006715488.1:p.Ala8509Thr
XM_011535641.2:c.25591G>A	XP_011533943.1:p.Ala8531Thr
XM_011535642.2:c.25579G>A	XP_011533944.1:p.Ala8527Thr
XM_011535645.2:c.23362G>A	XP_011533947.1:p.Ala7788Thr
XM_017010608.1:c.25594G>A	XP_016866097.1:p.Ala8532Thr
XM_017010609.1:c.25594G>A	XP_016866098.1:p.Ala8532Thr
XM_017010610.1:c.25573G>A	XP_016866099.1:p.Ala8525Thr
XM_017010611.2:c.25567G>A	XP_016866100.1:p.Ala8523Thr
XM_017010612.1:c.25516G>A	XP_016866101.1:p.Ala8506Thr
XM_017010613.1:c.25522G>A	XP_016866102.1:p.Ala8508Thr
XM_017010614.1:c.25438G>A	XP_016866103.1:p.Ala8480Thr
XM_017010615.1:c.25369G>A	XP_016866104.1:p.Ala8457Thr
XM_017010616.1:c.25525G>A	XP_016866105.1:p.Ala8509Thr
XM_017010617.1:c.25522G>A	XP_016866106.1:p.Ala8508Thr
XM_017010618.1:c.25510G>A	XP_016866107.1:p.Ala8504Thr
XM_017010619.1:c.23869G>A	XP_016866108.1:p.Ala7957Thr
NM_182961.4:c.25489G>A MANE Select	NP_892006.3:p.Ala8497Thr
NM_001347701.2:c.2095G>A	NP_001334630.1:p.Ala699Thr
NM_001347702.2:c.2023G>A MANE Plus Clinical	NP_001334631.1:p.Ala675Thr
NM_033071.5:c.25345G>A	NP_149062.2:p.Ala8449Thr