Canonical Allele Identifier: CA4053231

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 498934
• ClinVar RCV Id: RCV000597930
• dbSNP Id: rs763484805
• ExAC: 6:152473134 T / A
• gnomAD v2: 6-152473134-T-A
• gnomAD v3: 6-152151999-T-A
• gnomAD v4: 6-152151999-T-A
• MyVariant Identifiers: chr6:g.152473134T>A (hg19) ; chr6:g.152151999T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152151999T>A , CM000668.2:g.152151999T>A	GRCh38
NC_000006.11:g.152473134T>A , CM000668.1:g.152473134T>A	GRCh37
NC_000006.10:g.152514827T>A	NCBI36
NG_012855.1:g.490401A>T
NG_012855.2:g.490401A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.737A>T MANE Plus Clinical	ENSP00000346701.4:p.Asn246Ile
ENST00000367255.10:c.24272A>T MANE Select	ENSP00000356224.5:p.Asn8091Ile
ENST00000423061.6:c.24059A>T	ENSP00000396024.1:p.Asn8020Ile
ENST00000672169.1:c.7A>T
ENST00000673173.1:c.186A>T
ENST00000673451.1:c.44A>T	ENSP00000500189.1:p.Asn15Ile
ENST00000341594.9:c.23057A>T	ENSP00000341887.6:p.Asn7686Ile
ENST00000347037.9:n.951A>T
ENST00000354674.4:c.737A>T	ENSP00000346701.4:p.Asn246Ile
ENST00000367251.7:c.3038A>T	ENSP00000356220.3:p.Asn1013Ile
ENST00000367255.9:c.24272A>T	ENSP00000356224.5:p.Asn8091Ile
ENST00000367256.9:n.7964A>T
ENST00000367257.8:c.2210A>T	ENSP00000356226.4:p.Asn737Ile
ENST00000409694.6:n.7856A>T
ENST00000423061.5:c.24059A>T	ENSP00000396024.1:p.Asn8020Ile
ENST00000460912.6:n.817A>T
ENST00000476519.1:n.334A>T
ENST00000536990.5:n.1109A>T
ENST00000539504.5:c.737A>T	ENSP00000441052.1:p.Asn246Ile
NM_033071.3:c.24059A>T	NP_149062.1:p.Asn8020Ile
NM_182961.3:c.24272A>T	NP_892006.3:p.Asn8091Ile
XM_006715407.1:c.24308A>T	XP_006715470.1:p.Asn8103Ile
XM_006715408.1:c.24296A>T	XP_006715471.1:p.Asn8099Ile
XM_006715409.1:c.24287A>T	XP_006715472.1:p.Asn8096Ile
XM_006715410.1:c.24308A>T	XP_006715473.1:p.Asn8103Ile
XM_006715411.1:c.24257A>T	XP_006715474.1:p.Asn8086Ile
XM_006715412.1:c.24293A>T	XP_006715475.1:p.Asn8098Ile
XM_006715413.1:c.24308A>T	XP_006715476.1:p.Asn8103Ile
XM_006715414.1:c.24236A>T	XP_006715477.1:p.Asn8079Ile
XM_006715415.1:c.24308A>T	XP_006715478.1:p.Asn8103Ile
XM_006715416.1:c.24293A>T	XP_006715479.1:p.Asn8098Ile
XM_006715417.1:c.24167A>T	XP_006715480.1:p.Asn8056Ile
XM_006715420.1:c.24155A>T	XP_006715483.1:p.Asn8052Ile
XM_006715421.1:c.24152A>T	XP_006715484.1:p.Asn8051Ile
XM_006715422.1:c.24149A>T	XP_006715485.1:p.Asn8050Ile
XM_006715423.1:c.24308A>T	XP_006715486.1:p.Asn8103Ile
XM_006715424.1:c.24308A>T	XP_006715487.1:p.Asn8103Ile
XM_006715425.1:c.24308A>T	XP_006715488.1:p.Asn8103Ile
XM_011535641.1:c.24305A>T	XP_011533943.1:p.Asn8102Ile
XM_011535642.1:c.24293A>T	XP_011533944.1:p.Asn8098Ile
XM_011535643.1:c.24143A>T	XP_011533945.1:p.Asn8048Ile
XM_011535644.1:c.22583A>T	XP_011533946.1:p.Asn7528Ile
XM_011535645.1:c.22076A>T	XP_011533947.1:p.Asn7359Ile
XM_011535647.1:c.17543A>T	XP_011533949.1:p.Asn5848Ile
NM_001347701.1:c.878A>T	NP_001334630.1:p.Asn293Ile
NM_001347702.1:c.737A>T	NP_001334631.1:p.Asn246Ile
XM_006715408.2:c.24296A>T	XP_006715471.1:p.Asn8099Ile
XM_006715410.2:c.24308A>T	XP_006715473.1:p.Asn8103Ile
XM_006715412.2:c.24293A>T	XP_006715475.1:p.Asn8098Ile
XM_006715413.2:c.24308A>T	XP_006715476.1:p.Asn8103Ile
XM_006715415.2:c.24308A>T	XP_006715478.1:p.Asn8103Ile
XM_006715416.2:c.24293A>T	XP_006715479.1:p.Asn8098Ile
XM_006715417.2:c.24167A>T	XP_006715480.1:p.Asn8056Ile
XM_006715420.2:c.24155A>T	XP_006715483.1:p.Asn8052Ile
XM_006715421.2:c.24152A>T	XP_006715484.1:p.Asn8051Ile
XM_006715423.2:c.24308A>T	XP_006715486.1:p.Asn8103Ile
XM_006715424.2:c.24308A>T	XP_006715487.1:p.Asn8103Ile
XM_006715425.2:c.24308A>T	XP_006715488.1:p.Asn8103Ile
XM_011535641.2:c.24305A>T	XP_011533943.1:p.Asn8102Ile
XM_011535642.2:c.24293A>T	XP_011533944.1:p.Asn8098Ile
XM_011535645.2:c.22076A>T	XP_011533947.1:p.Asn7359Ile
XM_017010608.1:c.24308A>T	XP_016866097.1:p.Asn8103Ile
XM_017010609.1:c.24308A>T	XP_016866098.1:p.Asn8103Ile
XM_017010610.1:c.24287A>T	XP_016866099.1:p.Asn8096Ile
XM_017010611.2:c.24281A>T	XP_016866100.1:p.Asn8094Ile
XM_017010612.1:c.24230A>T	XP_016866101.1:p.Asn8077Ile
XM_017010613.1:c.24305A>T	XP_016866102.1:p.Asn8102Ile
XM_017010614.1:c.24152A>T	XP_016866103.1:p.Asn8051Ile
XM_017010615.1:c.24152A>T	XP_016866104.1:p.Asn8051Ile
XM_017010616.1:c.24308A>T	XP_016866105.1:p.Asn8103Ile
XM_017010617.1:c.24305A>T	XP_016866106.1:p.Asn8102Ile
XM_017010618.1:c.24293A>T	XP_016866107.1:p.Asn8098Ile
XM_017010619.1:c.22583A>T	XP_016866108.1:p.Asn7528Ile
NM_182961.4:c.24272A>T MANE Select	NP_892006.3:p.Asn8091Ile
NM_001347701.2:c.878A>T	NP_001334630.1:p.Asn293Ile
NM_001347702.2:c.737A>T MANE Plus Clinical	NP_001334631.1:p.Asn246Ile
NM_033071.5:c.24059A>T	NP_149062.2:p.Asn8020Ile