Canonical Allele Identifier: CA366080456

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140071-T-A
• MyVariant Identifiers: chr6:g.152461206T>A (hg19) ; chr6:g.152140071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140071T>A , CM000668.2:g.152140071T>A	GRCh38
NC_000006.11:g.152461206T>A , CM000668.1:g.152461206T>A	GRCh37
NC_000006.10:g.152502899T>A	NCBI36
NG_012855.1:g.502329A>T
NG_012855.2:g.502329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1871A>T MANE Plus Clinical	ENSP00000346701.4:p.Asn624Ile
ENST00000367255.10:c.25337A>T MANE Select	ENSP00000356224.5:p.Asn8446Ile
ENST00000423061.6:c.25193A>T	ENSP00000396024.1:p.Asn8398Ile
ENST00000672154.1:c.739A>T
ENST00000672169.1:c.1072A>T
ENST00000673173.1:c.981A>T
ENST00000673451.1:c.1109A>T	ENSP00000500189.1:p.Asn370Ile
ENST00000341594.9:c.24122A>T	ENSP00000341887.6:p.Asn8041Ile
ENST00000347037.9:n.2085A>T
ENST00000354674.4:c.1871A>T	ENSP00000346701.4:p.Asn624Ile
ENST00000367251.7:c.4172A>T	ENSP00000356220.3:p.Asn1391Ile
ENST00000367255.9:c.25337A>T	ENSP00000356224.5:p.Asn8446Ile
ENST00000367256.9:n.9029A>T
ENST00000367257.8:c.3275A>T	ENSP00000356226.4:p.Asn1092Ile
ENST00000409694.6:n.8921A>T
ENST00000423061.5:c.25193A>T	ENSP00000396024.1:p.Asn8398Ile
ENST00000460912.6:n.1951A>T
ENST00000478916.5:n.4359A>T
ENST00000536990.5:n.2174A>T
ENST00000539504.5:c.1802A>T	ENSP00000441052.1:p.Asn601Ile
NM_033071.3:c.25193A>T	NP_149062.1:p.Asn8398Ile
NM_182961.3:c.25337A>T	NP_892006.3:p.Asn8446Ile
XM_006715407.1:c.25442A>T	XP_006715470.1:p.Asn8481Ile
XM_006715408.1:c.25430A>T	XP_006715471.1:p.Asn8477Ile
XM_006715409.1:c.25421A>T	XP_006715472.1:p.Asn8474Ile
XM_006715410.1:c.25442A>T	XP_006715473.1:p.Asn8481Ile
XM_006715411.1:c.25391A>T	XP_006715474.1:p.Asn8464Ile
XM_006715412.1:c.25427A>T	XP_006715475.1:p.Asn8476Ile
XM_006715413.1:c.25373A>T	XP_006715476.1:p.Asn8458Ile
XM_006715414.1:c.25370A>T	XP_006715477.1:p.Asn8457Ile
XM_006715415.1:c.25373A>T	XP_006715478.1:p.Asn8458Ile
XM_006715416.1:c.25358A>T	XP_006715479.1:p.Asn8453Ile
XM_006715417.1:c.25301A>T	XP_006715480.1:p.Asn8434Ile
XM_006715420.1:c.25289A>T	XP_006715483.1:p.Asn8430Ile
XM_006715421.1:c.25286A>T	XP_006715484.1:p.Asn8429Ile
XM_006715422.1:c.25283A>T	XP_006715485.1:p.Asn8428Ile
XM_006715423.1:c.25442A>T	XP_006715486.1:p.Asn8481Ile
XM_006715424.1:c.25442A>T	XP_006715487.1:p.Asn8481Ile
XM_006715425.1:c.25373A>T	XP_006715488.1:p.Asn8458Ile
XM_011535641.1:c.25439A>T	XP_011533943.1:p.Asn8480Ile
XM_011535642.1:c.25427A>T	XP_011533944.1:p.Asn8476Ile
XM_011535643.1:c.25277A>T	XP_011533945.1:p.Asn8426Ile
XM_011535644.1:c.23717A>T	XP_011533946.1:p.Asn7906Ile
XM_011535645.1:c.23210A>T	XP_011533947.1:p.Asn7737Ile
XM_011535647.1:c.18677A>T	XP_011533949.1:p.Asn6226Ile
NM_001347701.1:c.1943A>T	NP_001334630.1:p.Asn648Ile
NM_001347702.1:c.1871A>T	NP_001334631.1:p.Asn624Ile
XM_006715408.2:c.25430A>T	XP_006715471.1:p.Asn8477Ile
XM_006715410.2:c.25442A>T	XP_006715473.1:p.Asn8481Ile
XM_006715412.2:c.25427A>T	XP_006715475.1:p.Asn8476Ile
XM_006715413.2:c.25373A>T	XP_006715476.1:p.Asn8458Ile
XM_006715415.2:c.25373A>T	XP_006715478.1:p.Asn8458Ile
XM_006715416.2:c.25358A>T	XP_006715479.1:p.Asn8453Ile
XM_006715417.2:c.25301A>T	XP_006715480.1:p.Asn8434Ile
XM_006715420.2:c.25289A>T	XP_006715483.1:p.Asn8430Ile
XM_006715421.2:c.25286A>T	XP_006715484.1:p.Asn8429Ile
XM_006715423.2:c.25442A>T	XP_006715486.1:p.Asn8481Ile
XM_006715424.2:c.25442A>T	XP_006715487.1:p.Asn8481Ile
XM_006715425.2:c.25373A>T	XP_006715488.1:p.Asn8458Ile
XM_011535641.2:c.25439A>T	XP_011533943.1:p.Asn8480Ile
XM_011535642.2:c.25427A>T	XP_011533944.1:p.Asn8476Ile
XM_011535645.2:c.23210A>T	XP_011533947.1:p.Asn7737Ile
XM_017010608.1:c.25442A>T	XP_016866097.1:p.Asn8481Ile
XM_017010609.1:c.25442A>T	XP_016866098.1:p.Asn8481Ile
XM_017010610.1:c.25421A>T	XP_016866099.1:p.Asn8474Ile
XM_017010611.2:c.25415A>T	XP_016866100.1:p.Asn8472Ile
XM_017010612.1:c.25364A>T	XP_016866101.1:p.Asn8455Ile
XM_017010613.1:c.25370A>T	XP_016866102.1:p.Asn8457Ile
XM_017010614.1:c.25286A>T	XP_016866103.1:p.Asn8429Ile
XM_017010615.1:c.25217A>T	XP_016866104.1:p.Asn8406Ile
XM_017010616.1:c.25373A>T	XP_016866105.1:p.Asn8458Ile
XM_017010617.1:c.25370A>T	XP_016866106.1:p.Asn8457Ile
XM_017010618.1:c.25358A>T	XP_016866107.1:p.Asn8453Ile
XM_017010619.1:c.23717A>T	XP_016866108.1:p.Asn7906Ile
NM_182961.4:c.25337A>T MANE Select	NP_892006.3:p.Asn8446Ile
NM_001347701.2:c.1943A>T	NP_001334630.1:p.Asn648Ile
NM_001347702.2:c.1871A>T MANE Plus Clinical	NP_001334631.1:p.Asn624Ile
NM_033071.5:c.25193A>T	NP_149062.2:p.Asn8398Ile