Canonical Allele Identifier: CA366085127

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152148166C>A , CM000668.2:g.152148166C>A	GRCh38
NC_000006.11:g.152469301C>A , CM000668.1:g.152469301C>A	GRCh37
NC_000006.10:g.152510994C>A	NCBI36
NG_012855.1:g.494234G>T
NG_012855.2:g.494234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1320G>T MANE Plus Clinical	ENSP00000346701.4:p.Trp440Cys
ENST00000367255.10:c.24855G>T MANE Select	ENSP00000356224.5:p.Trp8285Cys
ENST00000423061.6:c.24642G>T	ENSP00000396024.1:p.Trp8214Cys
ENST00000672154.1:c.257G>T
ENST00000672169.1:c.590G>T
ENST00000673173.1:c.769G>T
ENST00000673451.1:c.627G>T	ENSP00000500189.1:p.Trp209Cys
ENST00000341594.9:c.23640G>T	ENSP00000341887.6:p.Trp7880Cys
ENST00000347037.9:n.1534G>T
ENST00000354674.4:c.1320G>T	ENSP00000346701.4:p.Trp440Cys
ENST00000367251.7:c.3621G>T	ENSP00000356220.3:p.Trp1207Cys
ENST00000367255.9:c.24855G>T	ENSP00000356224.5:p.Trp8285Cys
ENST00000367256.9:n.8547G>T
ENST00000367257.8:c.2793G>T	ENSP00000356226.4:p.Trp931Cys
ENST00000409694.6:n.8439G>T
ENST00000423061.5:c.24642G>T	ENSP00000396024.1:p.Trp8214Cys
ENST00000460912.6:n.1400G>T
ENST00000472563.2:n.243G>T
ENST00000536990.5:n.1692G>T
ENST00000539504.5:c.1320G>T	ENSP00000441052.1:p.Trp440Cys
NM_033071.3:c.24642G>T	NP_149062.1:p.Trp8214Cys
NM_182961.3:c.24855G>T	NP_892006.3:p.Trp8285Cys
XM_006715407.1:c.24891G>T	XP_006715470.1:p.Trp8297Cys
XM_006715408.1:c.24879G>T	XP_006715471.1:p.Trp8293Cys
XM_006715409.1:c.24870G>T	XP_006715472.1:p.Trp8290Cys
XM_006715410.1:c.24891G>T	XP_006715473.1:p.Trp8297Cys
XM_006715411.1:c.24840G>T	XP_006715474.1:p.Trp8280Cys
XM_006715412.1:c.24876G>T	XP_006715475.1:p.Trp8292Cys
XM_006715413.1:c.24891G>T	XP_006715476.1:p.Trp8297Cys
XM_006715414.1:c.24819G>T	XP_006715477.1:p.Trp8273Cys
XM_006715415.1:c.24891G>T	XP_006715478.1:p.Trp8297Cys
XM_006715416.1:c.24876G>T	XP_006715479.1:p.Trp8292Cys
XM_006715417.1:c.24750G>T	XP_006715480.1:p.Trp8250Cys
XM_006715420.1:c.24738G>T	XP_006715483.1:p.Trp8246Cys
XM_006715421.1:c.24735G>T	XP_006715484.1:p.Trp8245Cys
XM_006715422.1:c.24732G>T	XP_006715485.1:p.Trp8244Cys
XM_006715423.1:c.24891G>T	XP_006715486.1:p.Trp8297Cys
XM_006715424.1:c.24891G>T	XP_006715487.1:p.Trp8297Cys
XM_006715425.1:c.24891G>T	XP_006715488.1:p.Trp8297Cys
XM_011535641.1:c.24888G>T	XP_011533943.1:p.Trp8296Cys
XM_011535642.1:c.24876G>T	XP_011533944.1:p.Trp8292Cys
XM_011535643.1:c.24726G>T	XP_011533945.1:p.Trp8242Cys
XM_011535644.1:c.23166G>T	XP_011533946.1:p.Trp7722Cys
XM_011535645.1:c.22659G>T	XP_011533947.1:p.Trp7553Cys
XM_011535647.1:c.18126G>T	XP_011533949.1:p.Trp6042Cys
NM_001347701.1:c.1461G>T	NP_001334630.1:p.Trp487Cys
NM_001347702.1:c.1320G>T	NP_001334631.1:p.Trp440Cys
XM_006715408.2:c.24879G>T	XP_006715471.1:p.Trp8293Cys
XM_006715410.2:c.24891G>T	XP_006715473.1:p.Trp8297Cys
XM_006715412.2:c.24876G>T	XP_006715475.1:p.Trp8292Cys
XM_006715413.2:c.24891G>T	XP_006715476.1:p.Trp8297Cys
XM_006715415.2:c.24891G>T	XP_006715478.1:p.Trp8297Cys
XM_006715416.2:c.24876G>T	XP_006715479.1:p.Trp8292Cys
XM_006715417.2:c.24750G>T	XP_006715480.1:p.Trp8250Cys
XM_006715420.2:c.24738G>T	XP_006715483.1:p.Trp8246Cys
XM_006715421.2:c.24735G>T	XP_006715484.1:p.Trp8245Cys
XM_006715423.2:c.24891G>T	XP_006715486.1:p.Trp8297Cys
XM_006715424.2:c.24891G>T	XP_006715487.1:p.Trp8297Cys
XM_006715425.2:c.24891G>T	XP_006715488.1:p.Trp8297Cys
XM_011535641.2:c.24888G>T	XP_011533943.1:p.Trp8296Cys
XM_011535642.2:c.24876G>T	XP_011533944.1:p.Trp8292Cys
XM_011535645.2:c.22659G>T	XP_011533947.1:p.Trp7553Cys
XM_017010608.1:c.24891G>T	XP_016866097.1:p.Trp8297Cys
XM_017010609.1:c.24891G>T	XP_016866098.1:p.Trp8297Cys
XM_017010610.1:c.24870G>T	XP_016866099.1:p.Trp8290Cys
XM_017010611.2:c.24864G>T	XP_016866100.1:p.Trp8288Cys
XM_017010612.1:c.24813G>T	XP_016866101.1:p.Trp8271Cys
XM_017010613.1:c.24888G>T	XP_016866102.1:p.Trp8296Cys
XM_017010614.1:c.24735G>T	XP_016866103.1:p.Trp8245Cys
XM_017010615.1:c.24735G>T	XP_016866104.1:p.Trp8245Cys
XM_017010616.1:c.24891G>T	XP_016866105.1:p.Trp8297Cys
XM_017010617.1:c.24888G>T	XP_016866106.1:p.Trp8296Cys
XM_017010618.1:c.24876G>T	XP_016866107.1:p.Trp8292Cys
XM_017010619.1:c.23166G>T	XP_016866108.1:p.Trp7722Cys
NM_182961.4:c.24855G>T MANE Select	NP_892006.3:p.Trp8285Cys
NM_001347701.2:c.1461G>T	NP_001334630.1:p.Trp487Cys
NM_001347702.2:c.1320G>T MANE Plus Clinical	NP_001334631.1:p.Trp440Cys
NM_033071.5:c.24642G>T	NP_149062.2:p.Trp8214Cys