Canonical Allele Identifier: CA4052870

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 1951873
• ClinVar RCV Id: RCV002695147
• dbSNP Id: rs766991360
• ExAC: 6:152461276 G / A
• gnomAD v2: 6-152461276-G-A
• gnomAD v4: 6-152140141-G-A
• MyVariant Identifiers: chr6:g.152461276G>A (hg19) ; chr6:g.152140141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140141G>A , CM000668.2:g.152140141G>A	GRCh38
NC_000006.11:g.152461276G>A , CM000668.1:g.152461276G>A	GRCh37
NC_000006.10:g.152502969G>A	NCBI36
NG_012855.1:g.502259C>T
NG_012855.2:g.502259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1801C>T MANE Plus Clinical	ENSP00000346701.4:p.Leu601Phe
ENST00000367255.10:c.25267C>T MANE Select	ENSP00000356224.5:p.Leu8423Phe
ENST00000423061.6:c.25123C>T	ENSP00000396024.1:p.Leu8375Phe
ENST00000672154.1:c.669C>T
ENST00000672169.1:c.1002C>T
ENST00000673173.1:c.911C>T
ENST00000673451.1:c.1039C>T	ENSP00000500189.1:p.Leu347Phe
ENST00000341594.9:c.24052C>T	ENSP00000341887.6:p.Leu8018Phe
ENST00000347037.9:n.2015C>T
ENST00000354674.4:c.1801C>T	ENSP00000346701.4:p.Leu601Phe
ENST00000367251.7:c.4102C>T	ENSP00000356220.3:p.Leu1368Phe
ENST00000367255.9:c.25267C>T	ENSP00000356224.5:p.Leu8423Phe
ENST00000367256.9:n.8959C>T
ENST00000367257.8:c.3205C>T	ENSP00000356226.4:p.Leu1069Phe
ENST00000409694.6:n.8851C>T
ENST00000423061.5:c.25123C>T	ENSP00000396024.1:p.Leu8375Phe
ENST00000460912.6:n.1881C>T
ENST00000478916.5:n.4289C>T
ENST00000536990.5:n.2104C>T
ENST00000539504.5:c.1732C>T	ENSP00000441052.1:p.Leu578Phe
NM_033071.3:c.25123C>T	NP_149062.1:p.Leu8375Phe
NM_182961.3:c.25267C>T	NP_892006.3:p.Leu8423Phe
XM_006715407.1:c.25372C>T	XP_006715470.1:p.Leu8458Phe
XM_006715408.1:c.25360C>T	XP_006715471.1:p.Leu8454Phe
XM_006715409.1:c.25351C>T	XP_006715472.1:p.Leu8451Phe
XM_006715410.1:c.25372C>T	XP_006715473.1:p.Leu8458Phe
XM_006715411.1:c.25321C>T	XP_006715474.1:p.Leu8441Phe
XM_006715412.1:c.25357C>T	XP_006715475.1:p.Leu8453Phe
XM_006715413.1:c.25303C>T	XP_006715476.1:p.Leu8435Phe
XM_006715414.1:c.25300C>T	XP_006715477.1:p.Leu8434Phe
XM_006715415.1:c.25303C>T	XP_006715478.1:p.Leu8435Phe
XM_006715416.1:c.25288C>T	XP_006715479.1:p.Leu8430Phe
XM_006715417.1:c.25231C>T	XP_006715480.1:p.Leu8411Phe
XM_006715420.1:c.25219C>T	XP_006715483.1:p.Leu8407Phe
XM_006715421.1:c.25216C>T	XP_006715484.1:p.Leu8406Phe
XM_006715422.1:c.25213C>T	XP_006715485.1:p.Leu8405Phe
XM_006715423.1:c.25372C>T	XP_006715486.1:p.Leu8458Phe
XM_006715424.1:c.25372C>T	XP_006715487.1:p.Leu8458Phe
XM_006715425.1:c.25303C>T	XP_006715488.1:p.Leu8435Phe
XM_011535641.1:c.25369C>T	XP_011533943.1:p.Leu8457Phe
XM_011535642.1:c.25357C>T	XP_011533944.1:p.Leu8453Phe
XM_011535643.1:c.25207C>T	XP_011533945.1:p.Leu8403Phe
XM_011535644.1:c.23647C>T	XP_011533946.1:p.Leu7883Phe
XM_011535645.1:c.23140C>T	XP_011533947.1:p.Leu7714Phe
XM_011535647.1:c.18607C>T	XP_011533949.1:p.Leu6203Phe
NM_001347701.1:c.1873C>T	NP_001334630.1:p.Leu625Phe
NM_001347702.1:c.1801C>T	NP_001334631.1:p.Leu601Phe
XM_006715408.2:c.25360C>T	XP_006715471.1:p.Leu8454Phe
XM_006715410.2:c.25372C>T	XP_006715473.1:p.Leu8458Phe
XM_006715412.2:c.25357C>T	XP_006715475.1:p.Leu8453Phe
XM_006715413.2:c.25303C>T	XP_006715476.1:p.Leu8435Phe
XM_006715415.2:c.25303C>T	XP_006715478.1:p.Leu8435Phe
XM_006715416.2:c.25288C>T	XP_006715479.1:p.Leu8430Phe
XM_006715417.2:c.25231C>T	XP_006715480.1:p.Leu8411Phe
XM_006715420.2:c.25219C>T	XP_006715483.1:p.Leu8407Phe
XM_006715421.2:c.25216C>T	XP_006715484.1:p.Leu8406Phe
XM_006715423.2:c.25372C>T	XP_006715486.1:p.Leu8458Phe
XM_006715424.2:c.25372C>T	XP_006715487.1:p.Leu8458Phe
XM_006715425.2:c.25303C>T	XP_006715488.1:p.Leu8435Phe
XM_011535641.2:c.25369C>T	XP_011533943.1:p.Leu8457Phe
XM_011535642.2:c.25357C>T	XP_011533944.1:p.Leu8453Phe
XM_011535645.2:c.23140C>T	XP_011533947.1:p.Leu7714Phe
XM_017010608.1:c.25372C>T	XP_016866097.1:p.Leu8458Phe
XM_017010609.1:c.25372C>T	XP_016866098.1:p.Leu8458Phe
XM_017010610.1:c.25351C>T	XP_016866099.1:p.Leu8451Phe
XM_017010611.2:c.25345C>T	XP_016866100.1:p.Leu8449Phe
XM_017010612.1:c.25294C>T	XP_016866101.1:p.Leu8432Phe
XM_017010613.1:c.25300C>T	XP_016866102.1:p.Leu8434Phe
XM_017010614.1:c.25216C>T	XP_016866103.1:p.Leu8406Phe
XM_017010615.1:c.25147C>T	XP_016866104.1:p.Leu8383Phe
XM_017010616.1:c.25303C>T	XP_016866105.1:p.Leu8435Phe
XM_017010617.1:c.25300C>T	XP_016866106.1:p.Leu8434Phe
XM_017010618.1:c.25288C>T	XP_016866107.1:p.Leu8430Phe
XM_017010619.1:c.23647C>T	XP_016866108.1:p.Leu7883Phe
NM_182961.4:c.25267C>T MANE Select	NP_892006.3:p.Leu8423Phe
NM_001347701.2:c.1873C>T	NP_001334630.1:p.Leu625Phe
NM_001347702.2:c.1801C>T MANE Plus Clinical	NP_001334631.1:p.Leu601Phe
NM_033071.5:c.25123C>T	NP_149062.2:p.Leu8375Phe