Canonical Allele Identifier: CA366081033

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461288C>A (hg19) ; chr6:g.152140153C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1789G>T MANE Plus Clinical	ENSP00000346701.4:p.Asp597Tyr
ENST00000367255.10:c.25255G>T MANE Select	ENSP00000356224.5:p.Asp8419Tyr
ENST00000423061.6:c.25111G>T	ENSP00000396024.1:p.Asp8371Tyr
ENST00000672154.1:c.657G>T
ENST00000672169.1:c.990G>T
ENST00000673173.1:c.899G>T
ENST00000673451.1:c.1027G>T	ENSP00000500189.1:p.Asp343Tyr
ENST00000341594.9:c.24040G>T	ENSP00000341887.6:p.Asp8014Tyr
ENST00000347037.9:n.2003G>T
ENST00000354674.4:c.1789G>T	ENSP00000346701.4:p.Asp597Tyr
ENST00000367251.7:c.4090G>T	ENSP00000356220.3:p.Asp1364Tyr
ENST00000367255.9:c.25255G>T	ENSP00000356224.5:p.Asp8419Tyr
ENST00000367256.9:n.8947G>T
ENST00000367257.8:c.3193G>T	ENSP00000356226.4:p.Asp1065Tyr
ENST00000409694.6:n.8839G>T
ENST00000423061.5:c.25111G>T	ENSP00000396024.1:p.Asp8371Tyr
ENST00000460912.6:n.1869G>T
ENST00000478916.5:n.4277G>T
ENST00000536990.5:n.2092G>T
ENST00000539504.5:c.1720G>T	ENSP00000441052.1:p.Asp574Tyr
NM_033071.3:c.25111G>T	NP_149062.1:p.Asp8371Tyr
NM_182961.3:c.25255G>T	NP_892006.3:p.Asp8419Tyr
XM_006715407.1:c.25360G>T	XP_006715470.1:p.Asp8454Tyr
XM_006715408.1:c.25348G>T	XP_006715471.1:p.Asp8450Tyr
XM_006715409.1:c.25339G>T	XP_006715472.1:p.Asp8447Tyr
XM_006715410.1:c.25360G>T	XP_006715473.1:p.Asp8454Tyr
XM_006715411.1:c.25309G>T	XP_006715474.1:p.Asp8437Tyr
XM_006715412.1:c.25345G>T	XP_006715475.1:p.Asp8449Tyr
XM_006715413.1:c.25291G>T	XP_006715476.1:p.Asp8431Tyr
XM_006715414.1:c.25288G>T	XP_006715477.1:p.Asp8430Tyr
XM_006715415.1:c.25291G>T	XP_006715478.1:p.Asp8431Tyr
XM_006715416.1:c.25276G>T	XP_006715479.1:p.Asp8426Tyr
XM_006715417.1:c.25219G>T	XP_006715480.1:p.Asp8407Tyr
XM_006715420.1:c.25207G>T	XP_006715483.1:p.Asp8403Tyr
XM_006715421.1:c.25204G>T	XP_006715484.1:p.Asp8402Tyr
XM_006715422.1:c.25201G>T	XP_006715485.1:p.Asp8401Tyr
XM_006715423.1:c.25360G>T	XP_006715486.1:p.Asp8454Tyr
XM_006715424.1:c.25360G>T	XP_006715487.1:p.Asp8454Tyr
XM_006715425.1:c.25291G>T	XP_006715488.1:p.Asp8431Tyr
XM_011535641.1:c.25357G>T	XP_011533943.1:p.Asp8453Tyr
XM_011535642.1:c.25345G>T	XP_011533944.1:p.Asp8449Tyr
XM_011535643.1:c.25195G>T	XP_011533945.1:p.Asp8399Tyr
XM_011535644.1:c.23635G>T	XP_011533946.1:p.Asp7879Tyr
XM_011535645.1:c.23128G>T	XP_011533947.1:p.Asp7710Tyr
XM_011535647.1:c.18595G>T	XP_011533949.1:p.Asp6199Tyr
NM_001347701.1:c.1861G>T	NP_001334630.1:p.Asp621Tyr
NM_001347702.1:c.1789G>T	NP_001334631.1:p.Asp597Tyr
XM_006715408.2:c.25348G>T	XP_006715471.1:p.Asp8450Tyr
XM_006715410.2:c.25360G>T	XP_006715473.1:p.Asp8454Tyr
XM_006715412.2:c.25345G>T	XP_006715475.1:p.Asp8449Tyr
XM_006715413.2:c.25291G>T	XP_006715476.1:p.Asp8431Tyr
XM_006715415.2:c.25291G>T	XP_006715478.1:p.Asp8431Tyr
XM_006715416.2:c.25276G>T	XP_006715479.1:p.Asp8426Tyr
XM_006715417.2:c.25219G>T	XP_006715480.1:p.Asp8407Tyr
XM_006715420.2:c.25207G>T	XP_006715483.1:p.Asp8403Tyr
XM_006715421.2:c.25204G>T	XP_006715484.1:p.Asp8402Tyr
XM_006715423.2:c.25360G>T	XP_006715486.1:p.Asp8454Tyr
XM_006715424.2:c.25360G>T	XP_006715487.1:p.Asp8454Tyr
XM_006715425.2:c.25291G>T	XP_006715488.1:p.Asp8431Tyr
XM_011535641.2:c.25357G>T	XP_011533943.1:p.Asp8453Tyr
XM_011535642.2:c.25345G>T	XP_011533944.1:p.Asp8449Tyr
XM_011535645.2:c.23128G>T	XP_011533947.1:p.Asp7710Tyr
XM_017010608.1:c.25360G>T	XP_016866097.1:p.Asp8454Tyr
XM_017010609.1:c.25360G>T	XP_016866098.1:p.Asp8454Tyr
XM_017010610.1:c.25339G>T	XP_016866099.1:p.Asp8447Tyr
XM_017010611.2:c.25333G>T	XP_016866100.1:p.Asp8445Tyr
XM_017010612.1:c.25282G>T	XP_016866101.1:p.Asp8428Tyr
XM_017010613.1:c.25288G>T	XP_016866102.1:p.Asp8430Tyr
XM_017010614.1:c.25204G>T	XP_016866103.1:p.Asp8402Tyr
XM_017010615.1:c.25135G>T	XP_016866104.1:p.Asp8379Tyr
XM_017010616.1:c.25291G>T	XP_016866105.1:p.Asp8431Tyr
XM_017010617.1:c.25288G>T	XP_016866106.1:p.Asp8430Tyr
XM_017010618.1:c.25276G>T	XP_016866107.1:p.Asp8426Tyr
XM_017010619.1:c.23635G>T	XP_016866108.1:p.Asp7879Tyr
NM_182961.4:c.25255G>T MANE Select	NP_892006.3:p.Asp8419Tyr
NM_001347701.2:c.1861G>T	NP_001334630.1:p.Asp621Tyr
NM_001347702.2:c.1789G>T MANE Plus Clinical	NP_001334631.1:p.Asp597Tyr
NM_033071.5:c.25111G>T	NP_149062.2:p.Asp8371Tyr