Canonical Allele Identifier: CA366080469

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461207T>A (hg19) ; chr6:g.152140072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140072T>A , CM000668.2:g.152140072T>A	GRCh38
NC_000006.11:g.152461207T>A , CM000668.1:g.152461207T>A	GRCh37
NC_000006.10:g.152502900T>A	NCBI36
NG_012855.1:g.502328A>T
NG_012855.2:g.502328A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1870A>T MANE Plus Clinical	ENSP00000346701.4:p.Asn624Tyr
ENST00000367255.10:c.25336A>T MANE Select	ENSP00000356224.5:p.Asn8446Tyr
ENST00000423061.6:c.25192A>T	ENSP00000396024.1:p.Asn8398Tyr
ENST00000672154.1:c.738A>T
ENST00000672169.1:c.1071A>T
ENST00000673173.1:c.980A>T
ENST00000673451.1:c.1108A>T	ENSP00000500189.1:p.Asn370Tyr
ENST00000341594.9:c.24121A>T	ENSP00000341887.6:p.Asn8041Tyr
ENST00000347037.9:n.2084A>T
ENST00000354674.4:c.1870A>T	ENSP00000346701.4:p.Asn624Tyr
ENST00000367251.7:c.4171A>T	ENSP00000356220.3:p.Asn1391Tyr
ENST00000367255.9:c.25336A>T	ENSP00000356224.5:p.Asn8446Tyr
ENST00000367256.9:n.9028A>T
ENST00000367257.8:c.3274A>T	ENSP00000356226.4:p.Asn1092Tyr
ENST00000409694.6:n.8920A>T
ENST00000423061.5:c.25192A>T	ENSP00000396024.1:p.Asn8398Tyr
ENST00000460912.6:n.1950A>T
ENST00000478916.5:n.4358A>T
ENST00000536990.5:n.2173A>T
ENST00000539504.5:c.1801A>T	ENSP00000441052.1:p.Asn601Tyr
NM_033071.3:c.25192A>T	NP_149062.1:p.Asn8398Tyr
NM_182961.3:c.25336A>T	NP_892006.3:p.Asn8446Tyr
XM_006715407.1:c.25441A>T	XP_006715470.1:p.Asn8481Tyr
XM_006715408.1:c.25429A>T	XP_006715471.1:p.Asn8477Tyr
XM_006715409.1:c.25420A>T	XP_006715472.1:p.Asn8474Tyr
XM_006715410.1:c.25441A>T	XP_006715473.1:p.Asn8481Tyr
XM_006715411.1:c.25390A>T	XP_006715474.1:p.Asn8464Tyr
XM_006715412.1:c.25426A>T	XP_006715475.1:p.Asn8476Tyr
XM_006715413.1:c.25372A>T	XP_006715476.1:p.Asn8458Tyr
XM_006715414.1:c.25369A>T	XP_006715477.1:p.Asn8457Tyr
XM_006715415.1:c.25372A>T	XP_006715478.1:p.Asn8458Tyr
XM_006715416.1:c.25357A>T	XP_006715479.1:p.Asn8453Tyr
XM_006715417.1:c.25300A>T	XP_006715480.1:p.Asn8434Tyr
XM_006715420.1:c.25288A>T	XP_006715483.1:p.Asn8430Tyr
XM_006715421.1:c.25285A>T	XP_006715484.1:p.Asn8429Tyr
XM_006715422.1:c.25282A>T	XP_006715485.1:p.Asn8428Tyr
XM_006715423.1:c.25441A>T	XP_006715486.1:p.Asn8481Tyr
XM_006715424.1:c.25441A>T	XP_006715487.1:p.Asn8481Tyr
XM_006715425.1:c.25372A>T	XP_006715488.1:p.Asn8458Tyr
XM_011535641.1:c.25438A>T	XP_011533943.1:p.Asn8480Tyr
XM_011535642.1:c.25426A>T	XP_011533944.1:p.Asn8476Tyr
XM_011535643.1:c.25276A>T	XP_011533945.1:p.Asn8426Tyr
XM_011535644.1:c.23716A>T	XP_011533946.1:p.Asn7906Tyr
XM_011535645.1:c.23209A>T	XP_011533947.1:p.Asn7737Tyr
XM_011535647.1:c.18676A>T	XP_011533949.1:p.Asn6226Tyr
NM_001347701.1:c.1942A>T	NP_001334630.1:p.Asn648Tyr
NM_001347702.1:c.1870A>T	NP_001334631.1:p.Asn624Tyr
XM_006715408.2:c.25429A>T	XP_006715471.1:p.Asn8477Tyr
XM_006715410.2:c.25441A>T	XP_006715473.1:p.Asn8481Tyr
XM_006715412.2:c.25426A>T	XP_006715475.1:p.Asn8476Tyr
XM_006715413.2:c.25372A>T	XP_006715476.1:p.Asn8458Tyr
XM_006715415.2:c.25372A>T	XP_006715478.1:p.Asn8458Tyr
XM_006715416.2:c.25357A>T	XP_006715479.1:p.Asn8453Tyr
XM_006715417.2:c.25300A>T	XP_006715480.1:p.Asn8434Tyr
XM_006715420.2:c.25288A>T	XP_006715483.1:p.Asn8430Tyr
XM_006715421.2:c.25285A>T	XP_006715484.1:p.Asn8429Tyr
XM_006715423.2:c.25441A>T	XP_006715486.1:p.Asn8481Tyr
XM_006715424.2:c.25441A>T	XP_006715487.1:p.Asn8481Tyr
XM_006715425.2:c.25372A>T	XP_006715488.1:p.Asn8458Tyr
XM_011535641.2:c.25438A>T	XP_011533943.1:p.Asn8480Tyr
XM_011535642.2:c.25426A>T	XP_011533944.1:p.Asn8476Tyr
XM_011535645.2:c.23209A>T	XP_011533947.1:p.Asn7737Tyr
XM_017010608.1:c.25441A>T	XP_016866097.1:p.Asn8481Tyr
XM_017010609.1:c.25441A>T	XP_016866098.1:p.Asn8481Tyr
XM_017010610.1:c.25420A>T	XP_016866099.1:p.Asn8474Tyr
XM_017010611.2:c.25414A>T	XP_016866100.1:p.Asn8472Tyr
XM_017010612.1:c.25363A>T	XP_016866101.1:p.Asn8455Tyr
XM_017010613.1:c.25369A>T	XP_016866102.1:p.Asn8457Tyr
XM_017010614.1:c.25285A>T	XP_016866103.1:p.Asn8429Tyr
XM_017010615.1:c.25216A>T	XP_016866104.1:p.Asn8406Tyr
XM_017010616.1:c.25372A>T	XP_016866105.1:p.Asn8458Tyr
XM_017010617.1:c.25369A>T	XP_016866106.1:p.Asn8457Tyr
XM_017010618.1:c.25357A>T	XP_016866107.1:p.Asn8453Tyr
XM_017010619.1:c.23716A>T	XP_016866108.1:p.Asn7906Tyr
NM_182961.4:c.25336A>T MANE Select	NP_892006.3:p.Asn8446Tyr
NM_001347701.2:c.1942A>T	NP_001334630.1:p.Asn648Tyr
NM_001347702.2:c.1870A>T MANE Plus Clinical	NP_001334631.1:p.Asn624Tyr
NM_033071.5:c.25192A>T	NP_149062.2:p.Asn8398Tyr