Canonical Allele Identifier: CA366082957

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464778C>A (hg19) ; chr6:g.152143643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143643C>A , CM000668.2:g.152143643C>A	GRCh38
NC_000006.11:g.152464778C>A , CM000668.1:g.152464778C>A	GRCh37
NC_000006.10:g.152506471C>A	NCBI36
NG_012855.1:g.498757G>T
NG_012855.2:g.498757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1633G>T MANE Plus Clinical	ENSP00000346701.4:p.Asp545Tyr
ENST00000367255.10:c.25099G>T MANE Select	ENSP00000356224.5:p.Asp8367Tyr
ENST00000423061.6:c.24955G>T	ENSP00000396024.1:p.Asp8319Tyr
ENST00000672154.1:c.501G>T
ENST00000672169.1:c.834G>T
ENST00000673173.1:c.891-3482G>T
ENST00000673451.1:c.871G>T	ENSP00000500189.1:p.Asp291Tyr
ENST00000341594.9:c.23884G>T	ENSP00000341887.6:p.Asp7962Tyr
ENST00000347037.9:n.1847G>T
ENST00000354674.4:c.1633G>T	ENSP00000346701.4:p.Asp545Tyr
ENST00000367251.7:c.3934G>T	ENSP00000356220.3:p.Asp1312Tyr
ENST00000367255.9:c.25099G>T	ENSP00000356224.5:p.Asp8367Tyr
ENST00000367256.9:n.8791G>T
ENST00000367257.8:c.3037G>T	ENSP00000356226.4:p.Asp1013Tyr
ENST00000409694.6:n.8683G>T
ENST00000423061.5:c.24955G>T	ENSP00000396024.1:p.Asp8319Tyr
ENST00000460912.6:n.1713G>T
ENST00000478916.5:n.4121G>T
ENST00000536990.5:n.1936G>T
ENST00000539504.5:c.1564G>T	ENSP00000441052.1:p.Asp522Tyr
NM_033071.3:c.24955G>T	NP_149062.1:p.Asp8319Tyr
NM_182961.3:c.25099G>T	NP_892006.3:p.Asp8367Tyr
XM_006715407.1:c.25204G>T	XP_006715470.1:p.Asp8402Tyr
XM_006715408.1:c.25192G>T	XP_006715471.1:p.Asp8398Tyr
XM_006715409.1:c.25183G>T	XP_006715472.1:p.Asp8395Tyr
XM_006715410.1:c.25204G>T	XP_006715473.1:p.Asp8402Tyr
XM_006715411.1:c.25153G>T	XP_006715474.1:p.Asp8385Tyr
XM_006715412.1:c.25189G>T	XP_006715475.1:p.Asp8397Tyr
XM_006715413.1:c.25135G>T	XP_006715476.1:p.Asp8379Tyr
XM_006715414.1:c.25132G>T	XP_006715477.1:p.Asp8378Tyr
XM_006715415.1:c.25135G>T	XP_006715478.1:p.Asp8379Tyr
XM_006715416.1:c.25120G>T	XP_006715479.1:p.Asp8374Tyr
XM_006715417.1:c.25063G>T	XP_006715480.1:p.Asp8355Tyr
XM_006715420.1:c.25051G>T	XP_006715483.1:p.Asp8351Tyr
XM_006715421.1:c.25048G>T	XP_006715484.1:p.Asp8350Tyr
XM_006715422.1:c.25045G>T	XP_006715485.1:p.Asp8349Tyr
XM_006715423.1:c.25204G>T	XP_006715486.1:p.Asp8402Tyr
XM_006715424.1:c.25204G>T	XP_006715487.1:p.Asp8402Tyr
XM_006715425.1:c.25135G>T	XP_006715488.1:p.Asp8379Tyr
XM_011535641.1:c.25201G>T	XP_011533943.1:p.Asp8401Tyr
XM_011535642.1:c.25189G>T	XP_011533944.1:p.Asp8397Tyr
XM_011535643.1:c.25039G>T	XP_011533945.1:p.Asp8347Tyr
XM_011535644.1:c.23479G>T	XP_011533946.1:p.Asp7827Tyr
XM_011535645.1:c.22972G>T	XP_011533947.1:p.Asp7658Tyr
XM_011535647.1:c.18439G>T	XP_011533949.1:p.Asp6147Tyr
NM_001347701.1:c.1705G>T	NP_001334630.1:p.Asp569Tyr
NM_001347702.1:c.1633G>T	NP_001334631.1:p.Asp545Tyr
XM_006715408.2:c.25192G>T	XP_006715471.1:p.Asp8398Tyr
XM_006715410.2:c.25204G>T	XP_006715473.1:p.Asp8402Tyr
XM_006715412.2:c.25189G>T	XP_006715475.1:p.Asp8397Tyr
XM_006715413.2:c.25135G>T	XP_006715476.1:p.Asp8379Tyr
XM_006715415.2:c.25135G>T	XP_006715478.1:p.Asp8379Tyr
XM_006715416.2:c.25120G>T	XP_006715479.1:p.Asp8374Tyr
XM_006715417.2:c.25063G>T	XP_006715480.1:p.Asp8355Tyr
XM_006715420.2:c.25051G>T	XP_006715483.1:p.Asp8351Tyr
XM_006715421.2:c.25048G>T	XP_006715484.1:p.Asp8350Tyr
XM_006715423.2:c.25204G>T	XP_006715486.1:p.Asp8402Tyr
XM_006715424.2:c.25204G>T	XP_006715487.1:p.Asp8402Tyr
XM_006715425.2:c.25135G>T	XP_006715488.1:p.Asp8379Tyr
XM_011535641.2:c.25201G>T	XP_011533943.1:p.Asp8401Tyr
XM_011535642.2:c.25189G>T	XP_011533944.1:p.Asp8397Tyr
XM_011535645.2:c.22972G>T	XP_011533947.1:p.Asp7658Tyr
XM_017010608.1:c.25204G>T	XP_016866097.1:p.Asp8402Tyr
XM_017010609.1:c.25204G>T	XP_016866098.1:p.Asp8402Tyr
XM_017010610.1:c.25183G>T	XP_016866099.1:p.Asp8395Tyr
XM_017010611.2:c.25177G>T	XP_016866100.1:p.Asp8393Tyr
XM_017010612.1:c.25126G>T	XP_016866101.1:p.Asp8376Tyr
XM_017010613.1:c.25132G>T	XP_016866102.1:p.Asp8378Tyr
XM_017010614.1:c.25048G>T	XP_016866103.1:p.Asp8350Tyr
XM_017010615.1:c.24979G>T	XP_016866104.1:p.Asp8327Tyr
XM_017010616.1:c.25135G>T	XP_016866105.1:p.Asp8379Tyr
XM_017010617.1:c.25132G>T	XP_016866106.1:p.Asp8378Tyr
XM_017010618.1:c.25120G>T	XP_016866107.1:p.Asp8374Tyr
XM_017010619.1:c.23479G>T	XP_016866108.1:p.Asp7827Tyr
NM_182961.4:c.25099G>T MANE Select	NP_892006.3:p.Asp8367Tyr
NM_001347701.2:c.1705G>T	NP_001334630.1:p.Asp569Tyr
NM_001347702.2:c.1633G>T MANE Plus Clinical	NP_001334631.1:p.Asp545Tyr
NM_033071.5:c.24955G>T	NP_149062.2:p.Asp8319Tyr