Canonical Allele Identifier: CA4054161

Gene: SYNE1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152224576A>G , CM000668.2:g.152224576A>G	GRCh38
NC_000006.11:g.152545711A>G , CM000668.1:g.152545711A>G	GRCh37
NC_000006.10:g.152587404A>G	NCBI36
NG_012855.1:g.417824T>C
NG_012855.2:g.417824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.21440T>C MANE Select	ENSP00000356224.5:p.Met7147Thr
ENST00000423061.6:c.21227T>C	ENSP00000396024.1:p.Met7076Thr
ENST00000341594.9:c.20225T>C	ENSP00000341887.6:p.Met6742Thr
ENST00000367251.7:c.206T>C	ENSP00000356220.3:p.Met69Thr
ENST00000367255.9:c.21440T>C	ENSP00000356224.5:p.Met7147Thr
ENST00000367256.9:n.5132T>C
ENST00000409694.6:n.5024T>C
ENST00000423061.5:c.21227T>C	ENSP00000396024.1:p.Met7076Thr
NM_033071.3:c.21227T>C	NP_149062.1:p.Met7076Thr
NM_182961.3:c.21440T>C	NP_892006.3:p.Met7147Thr
XM_006715407.1:c.21476T>C	XP_006715470.1:p.Met7159Thr
XM_006715408.1:c.21464T>C	XP_006715471.1:p.Met7155Thr
XM_006715409.1:c.21455T>C	XP_006715472.1:p.Met7152Thr
XM_006715410.1:c.21476T>C	XP_006715473.1:p.Met7159Thr
XM_006715411.1:c.21425T>C	XP_006715474.1:p.Met7142Thr
XM_006715412.1:c.21461T>C	XP_006715475.1:p.Met7154Thr
XM_006715413.1:c.21476T>C	XP_006715476.1:p.Met7159Thr
XM_006715414.1:c.21404T>C	XP_006715477.1:p.Met7135Thr
XM_006715415.1:c.21476T>C	XP_006715478.1:p.Met7159Thr
XM_006715416.1:c.21461T>C	XP_006715479.1:p.Met7154Thr
XM_006715417.1:c.21335T>C	XP_006715480.1:p.Met7112Thr
XM_006715420.1:c.21323T>C	XP_006715483.1:p.Met7108Thr
XM_006715421.1:c.21320T>C	XP_006715484.1:p.Met7107Thr
XM_006715422.1:c.21317T>C	XP_006715485.1:p.Met7106Thr
XM_006715423.1:c.21476T>C	XP_006715486.1:p.Met7159Thr
XM_006715424.1:c.21476T>C	XP_006715487.1:p.Met7159Thr
XM_006715425.1:c.21476T>C	XP_006715488.1:p.Met7159Thr
XM_011535641.1:c.21473T>C	XP_011533943.1:p.Met7158Thr
XM_011535642.1:c.21461T>C	XP_011533944.1:p.Met7154Thr
XM_011535643.1:c.21311T>C	XP_011533945.1:p.Met7104Thr
XM_011535644.1:c.19751T>C	XP_011533946.1:p.Met6584Thr
XM_011535645.1:c.19244T>C	XP_011533947.1:p.Met6415Thr
XM_011535647.1:c.14711T>C	XP_011533949.1:p.Met4904Thr
XM_006715408.2:c.21464T>C	XP_006715471.1:p.Met7155Thr
XM_006715410.2:c.21476T>C	XP_006715473.1:p.Met7159Thr
XM_006715412.2:c.21461T>C	XP_006715475.1:p.Met7154Thr
XM_006715413.2:c.21476T>C	XP_006715476.1:p.Met7159Thr
XM_006715415.2:c.21476T>C	XP_006715478.1:p.Met7159Thr
XM_006715416.2:c.21461T>C	XP_006715479.1:p.Met7154Thr
XM_006715417.2:c.21335T>C	XP_006715480.1:p.Met7112Thr
XM_006715420.2:c.21323T>C	XP_006715483.1:p.Met7108Thr
XM_006715421.2:c.21320T>C	XP_006715484.1:p.Met7107Thr
XM_006715423.2:c.21476T>C	XP_006715486.1:p.Met7159Thr
XM_006715424.2:c.21476T>C	XP_006715487.1:p.Met7159Thr
XM_006715425.2:c.21476T>C	XP_006715488.1:p.Met7159Thr
XM_011535641.2:c.21473T>C	XP_011533943.1:p.Met7158Thr
XM_011535642.2:c.21461T>C	XP_011533944.1:p.Met7154Thr
XM_011535645.2:c.19244T>C	XP_011533947.1:p.Met6415Thr
XM_017010608.1:c.21476T>C	XP_016866097.1:p.Met7159Thr
XM_017010609.1:c.21476T>C	XP_016866098.1:p.Met7159Thr
XM_017010610.1:c.21455T>C	XP_016866099.1:p.Met7152Thr
XM_017010611.2:c.21449T>C	XP_016866100.1:p.Met7150Thr
XM_017010612.1:c.21398T>C	XP_016866101.1:p.Met7133Thr
XM_017010613.1:c.21473T>C	XP_016866102.1:p.Met7158Thr
XM_017010614.1:c.21320T>C	XP_016866103.1:p.Met7107Thr
XM_017010615.1:c.21320T>C	XP_016866104.1:p.Met7107Thr
XM_017010616.1:c.21476T>C	XP_016866105.1:p.Met7159Thr
XM_017010617.1:c.21473T>C	XP_016866106.1:p.Met7158Thr
XM_017010618.1:c.21461T>C	XP_016866107.1:p.Met7154Thr
XM_017010619.1:c.19751T>C	XP_016866108.1:p.Met6584Thr
NM_182961.4:c.21440T>C MANE Select	NP_892006.3:p.Met7147Thr
NM_033071.5:c.21227T>C	NP_149062.2:p.Met7076Thr