Canonical Allele Identifier: CA366078625

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152135175T>A , CM000668.2:g.152135175T>A	GRCh38
NC_000006.11:g.152456310T>A , CM000668.1:g.152456310T>A	GRCh37
NC_000006.10:g.152498003T>A	NCBI36
NG_012855.1:g.507225A>T
NG_012855.2:g.507225A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.25717A>T MANE Select	NP_892006.3:p.Lys8573Ter
ENST00000367255.10:c.25717A>T MANE Select	ENSP00000356224.5:p.Lys8573Ter
NM_001347702.2:c.2251A>T MANE Plus Clinical	NP_001334631.1:p.Lys751Ter
ENST00000354674.5:c.2251A>T MANE Plus Clinical	ENSP00000346701.4:p.Lys751Ter
NM_001347701.1:c.2323A>T	NP_001334630.1:p.Lys775Ter
NM_001347701.2:c.2323A>T	NP_001334630.1:p.Lys775Ter
NM_001347702.1:c.2251A>T	NP_001334631.1:p.Lys751Ter
NM_033071.3:c.25573A>T	NP_149062.1:p.Lys8525Ter
NM_033071.5:c.25573A>T	NP_149062.2:p.Lys8525Ter
NM_182961.3:c.25717A>T	NP_892006.3:p.Lys8573Ter
ENST00000341594.9:c.24502A>T	ENSP00000341887.6:p.Lys8168Ter
ENST00000347037.9:n.2465A>T
ENST00000354674.4:c.2251A>T	ENSP00000346701.4:p.Lys751Ter
ENST00000367251.7:c.4552A>T	ENSP00000356220.3:p.Lys1518Ter
ENST00000367255.9:c.25717A>T	ENSP00000356224.5:p.Lys8573Ter
ENST00000367256.9:n.9409A>T
ENST00000367257.8:c.3655A>T	ENSP00000356226.4:p.Lys1219Ter
ENST00000409694.6:n.9301A>T
ENST00000423061.5:c.25573A>T	ENSP00000396024.1:p.Lys8525Ter
ENST00000423061.6:c.25573A>T	ENSP00000396024.1:p.Lys8525Ter
ENST00000460912.6:n.2331A>T
ENST00000478916.5:n.4739A>T
ENST00000536990.5:n.2554A>T
ENST00000539504.5:c.2182A>T	ENSP00000441052.1:p.Lys728Ter
ENST00000672154.1:c.1119A>T
ENST00000672169.1:c.1494A>T
ENST00000673173.1:c.1361A>T
ENST00000673451.1:c.1489A>T	ENSP00000500189.1:p.Lys497Ter
XM_006715407.1:c.25864A>T	XP_006715470.1:p.Lys8622Ter
XM_006715408.1:c.25852A>T	XP_006715471.1:p.Lys8618Ter
XM_006715408.2:c.25852A>T	XP_006715471.1:p.Lys8618Ter
XM_006715409.1:c.25843A>T	XP_006715472.1:p.Lys8615Ter
XM_006715410.1:c.25822A>T	XP_006715473.1:p.Lys8608Ter
XM_006715410.2:c.25822A>T	XP_006715473.1:p.Lys8608Ter
XM_006715411.1:c.25813A>T	XP_006715474.1:p.Lys8605Ter
XM_006715412.1:c.25807A>T	XP_006715475.1:p.Lys8603Ter
XM_006715412.2:c.25807A>T	XP_006715475.1:p.Lys8603Ter
XM_006715413.1:c.25795A>T	XP_006715476.1:p.Lys8599Ter
XM_006715413.2:c.25795A>T	XP_006715476.1:p.Lys8599Ter
XM_006715414.1:c.25792A>T	XP_006715477.1:p.Lys8598Ter
XM_006715415.1:c.25753A>T	XP_006715478.1:p.Lys8585Ter
XM_006715415.2:c.25753A>T	XP_006715478.1:p.Lys8585Ter
XM_006715416.1:c.25738A>T	XP_006715479.1:p.Lys8580Ter
XM_006715416.2:c.25738A>T	XP_006715479.1:p.Lys8580Ter
XM_006715417.1:c.25723A>T	XP_006715480.1:p.Lys8575Ter
XM_006715417.2:c.25723A>T	XP_006715480.1:p.Lys8575Ter
XM_006715420.1:c.25711A>T	XP_006715483.1:p.Lys8571Ter
XM_006715420.2:c.25711A>T	XP_006715483.1:p.Lys8571Ter
XM_006715421.1:c.25708A>T	XP_006715484.1:p.Lys8570Ter
XM_006715421.2:c.25708A>T	XP_006715484.1:p.Lys8570Ter
XM_006715422.1:c.25705A>T	XP_006715485.1:p.Lys8569Ter
XM_006715423.1:c.25864A>T	XP_006715486.1:p.Lys8622Ter
XM_006715423.2:c.25864A>T	XP_006715486.1:p.Lys8622Ter
XM_006715424.1:c.25822A>T	XP_006715487.1:p.Lys8608Ter
XM_006715424.2:c.25822A>T	XP_006715487.1:p.Lys8608Ter
XM_006715425.1:c.25753A>T	XP_006715488.1:p.Lys8585Ter
XM_006715425.2:c.25753A>T	XP_006715488.1:p.Lys8585Ter
XM_011535641.1:c.25861A>T	XP_011533943.1:p.Lys8621Ter
XM_011535641.2:c.25861A>T	XP_011533943.1:p.Lys8621Ter
XM_011535642.1:c.25849A>T	XP_011533944.1:p.Lys8617Ter
XM_011535642.2:c.25849A>T	XP_011533944.1:p.Lys8617Ter
XM_011535643.1:c.25699A>T	XP_011533945.1:p.Lys8567Ter
XM_011535644.1:c.24139A>T	XP_011533946.1:p.Lys8047Ter
XM_011535645.1:c.23632A>T	XP_011533947.1:p.Lys7878Ter
XM_011535645.2:c.23632A>T	XP_011533947.1:p.Lys7878Ter
XM_011535647.1:c.19099A>T	XP_011533949.1:p.Lys6367Ter
XM_017010608.1:c.25864A>T	XP_016866097.1:p.Lys8622Ter
XM_017010609.1:c.25864A>T	XP_016866098.1:p.Lys8622Ter
XM_017010610.1:c.25843A>T	XP_016866099.1:p.Lys8615Ter
XM_017010611.2:c.25837A>T	XP_016866100.1:p.Lys8613Ter
XM_017010612.1:c.25786A>T	XP_016866101.1:p.Lys8596Ter
XM_017010613.1:c.25750A>T	XP_016866102.1:p.Lys8584Ter
XM_017010614.1:c.25708A>T	XP_016866103.1:p.Lys8570Ter
XM_017010615.1:c.25597A>T	XP_016866104.1:p.Lys8533Ter
XM_017010616.1:c.25795A>T	XP_016866105.1:p.Lys8599Ter
XM_017010617.1:c.25750A>T	XP_016866106.1:p.Lys8584Ter
XM_017010618.1:c.25738A>T	XP_016866107.1:p.Lys8580Ter
XM_017010619.1:c.24139A>T	XP_016866108.1:p.Lys8047Ter