Canonical Allele Identifier: CA4052873

Gene: SYNE1

Linked Data

• dbSNP Id: rs368489813
• ExAC: 6:152461288 C / G
• gnomAD v2: 6-152461288-C-G
• gnomAD v3: 6-152140153-C-G
• gnomAD v4: 6-152140153-C-G
• MyVariant Identifiers: chr6:g.152461288C>G (hg19) ; chr6:g.152140153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140153C>G , CM000668.2:g.152140153C>G	GRCh38
NC_000006.11:g.152461288C>G , CM000668.1:g.152461288C>G	GRCh37
NC_000006.10:g.152502981C>G	NCBI36
NG_012855.1:g.502247G>C
NG_012855.2:g.502247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1789G>C MANE Plus Clinical	ENSP00000346701.4:p.Asp597His
ENST00000367255.10:c.25255G>C MANE Select	ENSP00000356224.5:p.Asp8419His
ENST00000423061.6:c.25111G>C	ENSP00000396024.1:p.Asp8371His
ENST00000672154.1:c.657G>C
ENST00000672169.1:c.990G>C
ENST00000673173.1:c.899G>C
ENST00000673451.1:c.1027G>C	ENSP00000500189.1:p.Asp343His
ENST00000341594.9:c.24040G>C	ENSP00000341887.6:p.Asp8014His
ENST00000347037.9:n.2003G>C
ENST00000354674.4:c.1789G>C	ENSP00000346701.4:p.Asp597His
ENST00000367251.7:c.4090G>C	ENSP00000356220.3:p.Asp1364His
ENST00000367255.9:c.25255G>C	ENSP00000356224.5:p.Asp8419His
ENST00000367256.9:n.8947G>C
ENST00000367257.8:c.3193G>C	ENSP00000356226.4:p.Asp1065His
ENST00000409694.6:n.8839G>C
ENST00000423061.5:c.25111G>C	ENSP00000396024.1:p.Asp8371His
ENST00000460912.6:n.1869G>C
ENST00000478916.5:n.4277G>C
ENST00000536990.5:n.2092G>C
ENST00000539504.5:c.1720G>C	ENSP00000441052.1:p.Asp574His
NM_033071.3:c.25111G>C	NP_149062.1:p.Asp8371His
NM_182961.3:c.25255G>C	NP_892006.3:p.Asp8419His
XM_006715407.1:c.25360G>C	XP_006715470.1:p.Asp8454His
XM_006715408.1:c.25348G>C	XP_006715471.1:p.Asp8450His
XM_006715409.1:c.25339G>C	XP_006715472.1:p.Asp8447His
XM_006715410.1:c.25360G>C	XP_006715473.1:p.Asp8454His
XM_006715411.1:c.25309G>C	XP_006715474.1:p.Asp8437His
XM_006715412.1:c.25345G>C	XP_006715475.1:p.Asp8449His
XM_006715413.1:c.25291G>C	XP_006715476.1:p.Asp8431His
XM_006715414.1:c.25288G>C	XP_006715477.1:p.Asp8430His
XM_006715415.1:c.25291G>C	XP_006715478.1:p.Asp8431His
XM_006715416.1:c.25276G>C	XP_006715479.1:p.Asp8426His
XM_006715417.1:c.25219G>C	XP_006715480.1:p.Asp8407His
XM_006715420.1:c.25207G>C	XP_006715483.1:p.Asp8403His
XM_006715421.1:c.25204G>C	XP_006715484.1:p.Asp8402His
XM_006715422.1:c.25201G>C	XP_006715485.1:p.Asp8401His
XM_006715423.1:c.25360G>C	XP_006715486.1:p.Asp8454His
XM_006715424.1:c.25360G>C	XP_006715487.1:p.Asp8454His
XM_006715425.1:c.25291G>C	XP_006715488.1:p.Asp8431His
XM_011535641.1:c.25357G>C	XP_011533943.1:p.Asp8453His
XM_011535642.1:c.25345G>C	XP_011533944.1:p.Asp8449His
XM_011535643.1:c.25195G>C	XP_011533945.1:p.Asp8399His
XM_011535644.1:c.23635G>C	XP_011533946.1:p.Asp7879His
XM_011535645.1:c.23128G>C	XP_011533947.1:p.Asp7710His
XM_011535647.1:c.18595G>C	XP_011533949.1:p.Asp6199His
NM_001347701.1:c.1861G>C	NP_001334630.1:p.Asp621His
NM_001347702.1:c.1789G>C	NP_001334631.1:p.Asp597His
XM_006715408.2:c.25348G>C	XP_006715471.1:p.Asp8450His
XM_006715410.2:c.25360G>C	XP_006715473.1:p.Asp8454His
XM_006715412.2:c.25345G>C	XP_006715475.1:p.Asp8449His
XM_006715413.2:c.25291G>C	XP_006715476.1:p.Asp8431His
XM_006715415.2:c.25291G>C	XP_006715478.1:p.Asp8431His
XM_006715416.2:c.25276G>C	XP_006715479.1:p.Asp8426His
XM_006715417.2:c.25219G>C	XP_006715480.1:p.Asp8407His
XM_006715420.2:c.25207G>C	XP_006715483.1:p.Asp8403His
XM_006715421.2:c.25204G>C	XP_006715484.1:p.Asp8402His
XM_006715423.2:c.25360G>C	XP_006715486.1:p.Asp8454His
XM_006715424.2:c.25360G>C	XP_006715487.1:p.Asp8454His
XM_006715425.2:c.25291G>C	XP_006715488.1:p.Asp8431His
XM_011535641.2:c.25357G>C	XP_011533943.1:p.Asp8453His
XM_011535642.2:c.25345G>C	XP_011533944.1:p.Asp8449His
XM_011535645.2:c.23128G>C	XP_011533947.1:p.Asp7710His
XM_017010608.1:c.25360G>C	XP_016866097.1:p.Asp8454His
XM_017010609.1:c.25360G>C	XP_016866098.1:p.Asp8454His
XM_017010610.1:c.25339G>C	XP_016866099.1:p.Asp8447His
XM_017010611.2:c.25333G>C	XP_016866100.1:p.Asp8445His
XM_017010612.1:c.25282G>C	XP_016866101.1:p.Asp8428His
XM_017010613.1:c.25288G>C	XP_016866102.1:p.Asp8430His
XM_017010614.1:c.25204G>C	XP_016866103.1:p.Asp8402His
XM_017010615.1:c.25135G>C	XP_016866104.1:p.Asp8379His
XM_017010616.1:c.25291G>C	XP_016866105.1:p.Asp8431His
XM_017010617.1:c.25288G>C	XP_016866106.1:p.Asp8430His
XM_017010618.1:c.25276G>C	XP_016866107.1:p.Asp8426His
XM_017010619.1:c.23635G>C	XP_016866108.1:p.Asp7879His
NM_182961.4:c.25255G>C MANE Select	NP_892006.3:p.Asp8419His
NM_001347701.2:c.1861G>C	NP_001334630.1:p.Asp621His
NM_001347702.2:c.1789G>C MANE Plus Clinical	NP_001334631.1:p.Asp597His
NM_033071.5:c.25111G>C	NP_149062.2:p.Asp8371His