Canonical Allele Identifier: CA4052953

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 845825
• ClinVar RCV Id: RCV001048968
• dbSNP Id: rs371476665
• ExAC: 6:152464774 G / A
• gnomAD v2: 6-152464774-G-A
• gnomAD v3: 6-152143639-G-A
• gnomAD v4: 6-152143639-G-A
• MyVariant Identifiers: chr6:g.152464774G>A (hg19) ; chr6:g.152143639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143639G>A , CM000668.2:g.152143639G>A	GRCh38
NC_000006.11:g.152464774G>A , CM000668.1:g.152464774G>A	GRCh37
NC_000006.10:g.152506467G>A	NCBI36
NG_012855.1:g.498761C>T
NG_012855.2:g.498761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1637C>T MANE Plus Clinical	ENSP00000346701.4:p.Thr546Ile
ENST00000367255.10:c.25103C>T MANE Select	ENSP00000356224.5:p.Thr8368Ile
ENST00000423061.6:c.24959C>T	ENSP00000396024.1:p.Thr8320Ile
ENST00000672154.1:c.505C>T
ENST00000672169.1:c.838C>T
ENST00000673173.1:c.891-3478C>T
ENST00000673451.1:c.875C>T	ENSP00000500189.1:p.Thr292Ile
ENST00000341594.9:c.23888C>T	ENSP00000341887.6:p.Thr7963Ile
ENST00000347037.9:n.1851C>T
ENST00000354674.4:c.1637C>T	ENSP00000346701.4:p.Thr546Ile
ENST00000367251.7:c.3938C>T	ENSP00000356220.3:p.Thr1313Ile
ENST00000367255.9:c.25103C>T	ENSP00000356224.5:p.Thr8368Ile
ENST00000367256.9:n.8795C>T
ENST00000367257.8:c.3041C>T	ENSP00000356226.4:p.Thr1014Ile
ENST00000409694.6:n.8687C>T
ENST00000423061.5:c.24959C>T	ENSP00000396024.1:p.Thr8320Ile
ENST00000460912.6:n.1717C>T
ENST00000478916.5:n.4125C>T
ENST00000536990.5:n.1940C>T
ENST00000539504.5:c.1568C>T	ENSP00000441052.1:p.Thr523Ile
NM_033071.3:c.24959C>T	NP_149062.1:p.Thr8320Ile
NM_182961.3:c.25103C>T	NP_892006.3:p.Thr8368Ile
XM_006715407.1:c.25208C>T	XP_006715470.1:p.Thr8403Ile
XM_006715408.1:c.25196C>T	XP_006715471.1:p.Thr8399Ile
XM_006715409.1:c.25187C>T	XP_006715472.1:p.Thr8396Ile
XM_006715410.1:c.25208C>T	XP_006715473.1:p.Thr8403Ile
XM_006715411.1:c.25157C>T	XP_006715474.1:p.Thr8386Ile
XM_006715412.1:c.25193C>T	XP_006715475.1:p.Thr8398Ile
XM_006715413.1:c.25139C>T	XP_006715476.1:p.Thr8380Ile
XM_006715414.1:c.25136C>T	XP_006715477.1:p.Thr8379Ile
XM_006715415.1:c.25139C>T	XP_006715478.1:p.Thr8380Ile
XM_006715416.1:c.25124C>T	XP_006715479.1:p.Thr8375Ile
XM_006715417.1:c.25067C>T	XP_006715480.1:p.Thr8356Ile
XM_006715420.1:c.25055C>T	XP_006715483.1:p.Thr8352Ile
XM_006715421.1:c.25052C>T	XP_006715484.1:p.Thr8351Ile
XM_006715422.1:c.25049C>T	XP_006715485.1:p.Thr8350Ile
XM_006715423.1:c.25208C>T	XP_006715486.1:p.Thr8403Ile
XM_006715424.1:c.25208C>T	XP_006715487.1:p.Thr8403Ile
XM_006715425.1:c.25139C>T	XP_006715488.1:p.Thr8380Ile
XM_011535641.1:c.25205C>T	XP_011533943.1:p.Thr8402Ile
XM_011535642.1:c.25193C>T	XP_011533944.1:p.Thr8398Ile
XM_011535643.1:c.25043C>T	XP_011533945.1:p.Thr8348Ile
XM_011535644.1:c.23483C>T	XP_011533946.1:p.Thr7828Ile
XM_011535645.1:c.22976C>T	XP_011533947.1:p.Thr7659Ile
XM_011535647.1:c.18443C>T	XP_011533949.1:p.Thr6148Ile
NM_001347701.1:c.1709C>T	NP_001334630.1:p.Thr570Ile
NM_001347702.1:c.1637C>T	NP_001334631.1:p.Thr546Ile
XM_006715408.2:c.25196C>T	XP_006715471.1:p.Thr8399Ile
XM_006715410.2:c.25208C>T	XP_006715473.1:p.Thr8403Ile
XM_006715412.2:c.25193C>T	XP_006715475.1:p.Thr8398Ile
XM_006715413.2:c.25139C>T	XP_006715476.1:p.Thr8380Ile
XM_006715415.2:c.25139C>T	XP_006715478.1:p.Thr8380Ile
XM_006715416.2:c.25124C>T	XP_006715479.1:p.Thr8375Ile
XM_006715417.2:c.25067C>T	XP_006715480.1:p.Thr8356Ile
XM_006715420.2:c.25055C>T	XP_006715483.1:p.Thr8352Ile
XM_006715421.2:c.25052C>T	XP_006715484.1:p.Thr8351Ile
XM_006715423.2:c.25208C>T	XP_006715486.1:p.Thr8403Ile
XM_006715424.2:c.25208C>T	XP_006715487.1:p.Thr8403Ile
XM_006715425.2:c.25139C>T	XP_006715488.1:p.Thr8380Ile
XM_011535641.2:c.25205C>T	XP_011533943.1:p.Thr8402Ile
XM_011535642.2:c.25193C>T	XP_011533944.1:p.Thr8398Ile
XM_011535645.2:c.22976C>T	XP_011533947.1:p.Thr7659Ile
XM_017010608.1:c.25208C>T	XP_016866097.1:p.Thr8403Ile
XM_017010609.1:c.25208C>T	XP_016866098.1:p.Thr8403Ile
XM_017010610.1:c.25187C>T	XP_016866099.1:p.Thr8396Ile
XM_017010611.2:c.25181C>T	XP_016866100.1:p.Thr8394Ile
XM_017010612.1:c.25130C>T	XP_016866101.1:p.Thr8377Ile
XM_017010613.1:c.25136C>T	XP_016866102.1:p.Thr8379Ile
XM_017010614.1:c.25052C>T	XP_016866103.1:p.Thr8351Ile
XM_017010615.1:c.24983C>T	XP_016866104.1:p.Thr8328Ile
XM_017010616.1:c.25139C>T	XP_016866105.1:p.Thr8380Ile
XM_017010617.1:c.25136C>T	XP_016866106.1:p.Thr8379Ile
XM_017010618.1:c.25124C>T	XP_016866107.1:p.Thr8375Ile
XM_017010619.1:c.23483C>T	XP_016866108.1:p.Thr7828Ile
NM_182961.4:c.25103C>T MANE Select	NP_892006.3:p.Thr8368Ile
NM_001347701.2:c.1709C>T	NP_001334630.1:p.Thr570Ile
NM_001347702.2:c.1637C>T MANE Plus Clinical	NP_001334631.1:p.Thr546Ile
NM_033071.5:c.24959C>T	NP_149062.2:p.Thr8320Ile