Canonical Allele Identifier: CA150165638

Gene: SYNE1

Linked Data

• dbSNP Id: rs868190803
• MyVariant Identifiers: chr6:g.152461270G>A (hg19) ; chr6:g.152140135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140135G>A , CM000668.2:g.152140135G>A	GRCh38
NC_000006.11:g.152461270G>A , CM000668.1:g.152461270G>A	GRCh37
NC_000006.10:g.152502963G>A	NCBI36
NG_012855.1:g.502265C>T
NG_012855.2:g.502265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1807C>T MANE Plus Clinical	ENSP00000346701.4:p.Gln603Ter
ENST00000367255.10:c.25273C>T MANE Select	ENSP00000356224.5:p.Gln8425Ter
ENST00000423061.6:c.25129C>T	ENSP00000396024.1:p.Gln8377Ter
ENST00000672154.1:c.675C>T
ENST00000672169.1:c.1008C>T
ENST00000673173.1:c.917C>T
ENST00000673451.1:c.1045C>T	ENSP00000500189.1:p.Gln349Ter
ENST00000341594.9:c.24058C>T	ENSP00000341887.6:p.Gln8020Ter
ENST00000347037.9:n.2021C>T
ENST00000354674.4:c.1807C>T	ENSP00000346701.4:p.Gln603Ter
ENST00000367251.7:c.4108C>T	ENSP00000356220.3:p.Gln1370Ter
ENST00000367255.9:c.25273C>T	ENSP00000356224.5:p.Gln8425Ter
ENST00000367256.9:n.8965C>T
ENST00000367257.8:c.3211C>T	ENSP00000356226.4:p.Gln1071Ter
ENST00000409694.6:n.8857C>T
ENST00000423061.5:c.25129C>T	ENSP00000396024.1:p.Gln8377Ter
ENST00000460912.6:n.1887C>T
ENST00000478916.5:n.4295C>T
ENST00000536990.5:n.2110C>T
ENST00000539504.5:c.1738C>T	ENSP00000441052.1:p.Gln580Ter
NM_033071.3:c.25129C>T	NP_149062.1:p.Gln8377Ter
NM_182961.3:c.25273C>T	NP_892006.3:p.Gln8425Ter
XM_006715407.1:c.25378C>T	XP_006715470.1:p.Gln8460Ter
XM_006715408.1:c.25366C>T	XP_006715471.1:p.Gln8456Ter
XM_006715409.1:c.25357C>T	XP_006715472.1:p.Gln8453Ter
XM_006715410.1:c.25378C>T	XP_006715473.1:p.Gln8460Ter
XM_006715411.1:c.25327C>T	XP_006715474.1:p.Gln8443Ter
XM_006715412.1:c.25363C>T	XP_006715475.1:p.Gln8455Ter
XM_006715413.1:c.25309C>T	XP_006715476.1:p.Gln8437Ter
XM_006715414.1:c.25306C>T	XP_006715477.1:p.Gln8436Ter
XM_006715415.1:c.25309C>T	XP_006715478.1:p.Gln8437Ter
XM_006715416.1:c.25294C>T	XP_006715479.1:p.Gln8432Ter
XM_006715417.1:c.25237C>T	XP_006715480.1:p.Gln8413Ter
XM_006715420.1:c.25225C>T	XP_006715483.1:p.Gln8409Ter
XM_006715421.1:c.25222C>T	XP_006715484.1:p.Gln8408Ter
XM_006715422.1:c.25219C>T	XP_006715485.1:p.Gln8407Ter
XM_006715423.1:c.25378C>T	XP_006715486.1:p.Gln8460Ter
XM_006715424.1:c.25378C>T	XP_006715487.1:p.Gln8460Ter
XM_006715425.1:c.25309C>T	XP_006715488.1:p.Gln8437Ter
XM_011535641.1:c.25375C>T	XP_011533943.1:p.Gln8459Ter
XM_011535642.1:c.25363C>T	XP_011533944.1:p.Gln8455Ter
XM_011535643.1:c.25213C>T	XP_011533945.1:p.Gln8405Ter
XM_011535644.1:c.23653C>T	XP_011533946.1:p.Gln7885Ter
XM_011535645.1:c.23146C>T	XP_011533947.1:p.Gln7716Ter
XM_011535647.1:c.18613C>T	XP_011533949.1:p.Gln6205Ter
NM_001347701.1:c.1879C>T	NP_001334630.1:p.Gln627Ter
NM_001347702.1:c.1807C>T	NP_001334631.1:p.Gln603Ter
XM_006715408.2:c.25366C>T	XP_006715471.1:p.Gln8456Ter
XM_006715410.2:c.25378C>T	XP_006715473.1:p.Gln8460Ter
XM_006715412.2:c.25363C>T	XP_006715475.1:p.Gln8455Ter
XM_006715413.2:c.25309C>T	XP_006715476.1:p.Gln8437Ter
XM_006715415.2:c.25309C>T	XP_006715478.1:p.Gln8437Ter
XM_006715416.2:c.25294C>T	XP_006715479.1:p.Gln8432Ter
XM_006715417.2:c.25237C>T	XP_006715480.1:p.Gln8413Ter
XM_006715420.2:c.25225C>T	XP_006715483.1:p.Gln8409Ter
XM_006715421.2:c.25222C>T	XP_006715484.1:p.Gln8408Ter
XM_006715423.2:c.25378C>T	XP_006715486.1:p.Gln8460Ter
XM_006715424.2:c.25378C>T	XP_006715487.1:p.Gln8460Ter
XM_006715425.2:c.25309C>T	XP_006715488.1:p.Gln8437Ter
XM_011535641.2:c.25375C>T	XP_011533943.1:p.Gln8459Ter
XM_011535642.2:c.25363C>T	XP_011533944.1:p.Gln8455Ter
XM_011535645.2:c.23146C>T	XP_011533947.1:p.Gln7716Ter
XM_017010608.1:c.25378C>T	XP_016866097.1:p.Gln8460Ter
XM_017010609.1:c.25378C>T	XP_016866098.1:p.Gln8460Ter
XM_017010610.1:c.25357C>T	XP_016866099.1:p.Gln8453Ter
XM_017010611.2:c.25351C>T	XP_016866100.1:p.Gln8451Ter
XM_017010612.1:c.25300C>T	XP_016866101.1:p.Gln8434Ter
XM_017010613.1:c.25306C>T	XP_016866102.1:p.Gln8436Ter
XM_017010614.1:c.25222C>T	XP_016866103.1:p.Gln8408Ter
XM_017010615.1:c.25153C>T	XP_016866104.1:p.Gln8385Ter
XM_017010616.1:c.25309C>T	XP_016866105.1:p.Gln8437Ter
XM_017010617.1:c.25306C>T	XP_016866106.1:p.Gln8436Ter
XM_017010618.1:c.25294C>T	XP_016866107.1:p.Gln8432Ter
XM_017010619.1:c.23653C>T	XP_016866108.1:p.Gln7885Ter
NM_182961.4:c.25273C>T MANE Select	NP_892006.3:p.Gln8425Ter
NM_001347701.2:c.1879C>T	NP_001334630.1:p.Gln627Ter
NM_001347702.2:c.1807C>T MANE Plus Clinical	NP_001334631.1:p.Gln603Ter
NM_033071.5:c.25129C>T	NP_149062.2:p.Gln8377Ter