Canonical Allele Identifier: CA366080880

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140129-G-A
• MyVariant Identifiers: chr6:g.152461264G>A (hg19) ; chr6:g.152140129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140129G>A , CM000668.2:g.152140129G>A	GRCh38
NC_000006.11:g.152461264G>A , CM000668.1:g.152461264G>A	GRCh37
NC_000006.10:g.152502957G>A	NCBI36
NG_012855.1:g.502271C>T
NG_012855.2:g.502271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1813C>T MANE Plus Clinical	ENSP00000346701.4:p.Gln605Ter
ENST00000367255.10:c.25279C>T MANE Select	ENSP00000356224.5:p.Gln8427Ter
ENST00000423061.6:c.25135C>T	ENSP00000396024.1:p.Gln8379Ter
ENST00000672154.1:c.681C>T
ENST00000672169.1:c.1014C>T
ENST00000673173.1:c.923C>T
ENST00000673451.1:c.1051C>T	ENSP00000500189.1:p.Gln351Ter
ENST00000341594.9:c.24064C>T	ENSP00000341887.6:p.Gln8022Ter
ENST00000347037.9:n.2027C>T
ENST00000354674.4:c.1813C>T	ENSP00000346701.4:p.Gln605Ter
ENST00000367251.7:c.4114C>T	ENSP00000356220.3:p.Gln1372Ter
ENST00000367255.9:c.25279C>T	ENSP00000356224.5:p.Gln8427Ter
ENST00000367256.9:n.8971C>T
ENST00000367257.8:c.3217C>T	ENSP00000356226.4:p.Gln1073Ter
ENST00000409694.6:n.8863C>T
ENST00000423061.5:c.25135C>T	ENSP00000396024.1:p.Gln8379Ter
ENST00000460912.6:n.1893C>T
ENST00000478916.5:n.4301C>T
ENST00000536990.5:n.2116C>T
ENST00000539504.5:c.1744C>T	ENSP00000441052.1:p.Gln582Ter
NM_033071.3:c.25135C>T	NP_149062.1:p.Gln8379Ter
NM_182961.3:c.25279C>T	NP_892006.3:p.Gln8427Ter
XM_006715407.1:c.25384C>T	XP_006715470.1:p.Gln8462Ter
XM_006715408.1:c.25372C>T	XP_006715471.1:p.Gln8458Ter
XM_006715409.1:c.25363C>T	XP_006715472.1:p.Gln8455Ter
XM_006715410.1:c.25384C>T	XP_006715473.1:p.Gln8462Ter
XM_006715411.1:c.25333C>T	XP_006715474.1:p.Gln8445Ter
XM_006715412.1:c.25369C>T	XP_006715475.1:p.Gln8457Ter
XM_006715413.1:c.25315C>T	XP_006715476.1:p.Gln8439Ter
XM_006715414.1:c.25312C>T	XP_006715477.1:p.Gln8438Ter
XM_006715415.1:c.25315C>T	XP_006715478.1:p.Gln8439Ter
XM_006715416.1:c.25300C>T	XP_006715479.1:p.Gln8434Ter
XM_006715417.1:c.25243C>T	XP_006715480.1:p.Gln8415Ter
XM_006715420.1:c.25231C>T	XP_006715483.1:p.Gln8411Ter
XM_006715421.1:c.25228C>T	XP_006715484.1:p.Gln8410Ter
XM_006715422.1:c.25225C>T	XP_006715485.1:p.Gln8409Ter
XM_006715423.1:c.25384C>T	XP_006715486.1:p.Gln8462Ter
XM_006715424.1:c.25384C>T	XP_006715487.1:p.Gln8462Ter
XM_006715425.1:c.25315C>T	XP_006715488.1:p.Gln8439Ter
XM_011535641.1:c.25381C>T	XP_011533943.1:p.Gln8461Ter
XM_011535642.1:c.25369C>T	XP_011533944.1:p.Gln8457Ter
XM_011535643.1:c.25219C>T	XP_011533945.1:p.Gln8407Ter
XM_011535644.1:c.23659C>T	XP_011533946.1:p.Gln7887Ter
XM_011535645.1:c.23152C>T	XP_011533947.1:p.Gln7718Ter
XM_011535647.1:c.18619C>T	XP_011533949.1:p.Gln6207Ter
NM_001347701.1:c.1885C>T	NP_001334630.1:p.Gln629Ter
NM_001347702.1:c.1813C>T	NP_001334631.1:p.Gln605Ter
XM_006715408.2:c.25372C>T	XP_006715471.1:p.Gln8458Ter
XM_006715410.2:c.25384C>T	XP_006715473.1:p.Gln8462Ter
XM_006715412.2:c.25369C>T	XP_006715475.1:p.Gln8457Ter
XM_006715413.2:c.25315C>T	XP_006715476.1:p.Gln8439Ter
XM_006715415.2:c.25315C>T	XP_006715478.1:p.Gln8439Ter
XM_006715416.2:c.25300C>T	XP_006715479.1:p.Gln8434Ter
XM_006715417.2:c.25243C>T	XP_006715480.1:p.Gln8415Ter
XM_006715420.2:c.25231C>T	XP_006715483.1:p.Gln8411Ter
XM_006715421.2:c.25228C>T	XP_006715484.1:p.Gln8410Ter
XM_006715423.2:c.25384C>T	XP_006715486.1:p.Gln8462Ter
XM_006715424.2:c.25384C>T	XP_006715487.1:p.Gln8462Ter
XM_006715425.2:c.25315C>T	XP_006715488.1:p.Gln8439Ter
XM_011535641.2:c.25381C>T	XP_011533943.1:p.Gln8461Ter
XM_011535642.2:c.25369C>T	XP_011533944.1:p.Gln8457Ter
XM_011535645.2:c.23152C>T	XP_011533947.1:p.Gln7718Ter
XM_017010608.1:c.25384C>T	XP_016866097.1:p.Gln8462Ter
XM_017010609.1:c.25384C>T	XP_016866098.1:p.Gln8462Ter
XM_017010610.1:c.25363C>T	XP_016866099.1:p.Gln8455Ter
XM_017010611.2:c.25357C>T	XP_016866100.1:p.Gln8453Ter
XM_017010612.1:c.25306C>T	XP_016866101.1:p.Gln8436Ter
XM_017010613.1:c.25312C>T	XP_016866102.1:p.Gln8438Ter
XM_017010614.1:c.25228C>T	XP_016866103.1:p.Gln8410Ter
XM_017010615.1:c.25159C>T	XP_016866104.1:p.Gln8387Ter
XM_017010616.1:c.25315C>T	XP_016866105.1:p.Gln8439Ter
XM_017010617.1:c.25312C>T	XP_016866106.1:p.Gln8438Ter
XM_017010618.1:c.25300C>T	XP_016866107.1:p.Gln8434Ter
XM_017010619.1:c.23659C>T	XP_016866108.1:p.Gln7887Ter
NM_182961.4:c.25279C>T MANE Select	NP_892006.3:p.Gln8427Ter
NM_001347701.2:c.1885C>T	NP_001334630.1:p.Gln629Ter
NM_001347702.2:c.1813C>T MANE Plus Clinical	NP_001334631.1:p.Gln605Ter
NM_033071.5:c.25135C>T	NP_149062.2:p.Gln8379Ter