Canonical Allele Identifier: CA366080910

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461272A>G (hg19) ; chr6:g.152140137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140137A>G , CM000668.2:g.152140137A>G	GRCh38
NC_000006.11:g.152461272A>G , CM000668.1:g.152461272A>G	GRCh37
NC_000006.10:g.152502965A>G	NCBI36
NG_012855.1:g.502263T>C
NG_012855.2:g.502263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1805T>C MANE Plus Clinical	ENSP00000346701.4:p.Leu602Pro
ENST00000367255.10:c.25271T>C MANE Select	ENSP00000356224.5:p.Leu8424Pro
ENST00000423061.6:c.25127T>C	ENSP00000396024.1:p.Leu8376Pro
ENST00000672154.1:c.673T>C
ENST00000672169.1:c.1006T>C
ENST00000673173.1:c.915T>C
ENST00000673451.1:c.1043T>C	ENSP00000500189.1:p.Leu348Pro
ENST00000341594.9:c.24056T>C	ENSP00000341887.6:p.Leu8019Pro
ENST00000347037.9:n.2019T>C
ENST00000354674.4:c.1805T>C	ENSP00000346701.4:p.Leu602Pro
ENST00000367251.7:c.4106T>C	ENSP00000356220.3:p.Leu1369Pro
ENST00000367255.9:c.25271T>C	ENSP00000356224.5:p.Leu8424Pro
ENST00000367256.9:n.8963T>C
ENST00000367257.8:c.3209T>C	ENSP00000356226.4:p.Leu1070Pro
ENST00000409694.6:n.8855T>C
ENST00000423061.5:c.25127T>C	ENSP00000396024.1:p.Leu8376Pro
ENST00000460912.6:n.1885T>C
ENST00000478916.5:n.4293T>C
ENST00000536990.5:n.2108T>C
ENST00000539504.5:c.1736T>C	ENSP00000441052.1:p.Leu579Pro
NM_033071.3:c.25127T>C	NP_149062.1:p.Leu8376Pro
NM_182961.3:c.25271T>C	NP_892006.3:p.Leu8424Pro
XM_006715407.1:c.25376T>C	XP_006715470.1:p.Leu8459Pro
XM_006715408.1:c.25364T>C	XP_006715471.1:p.Leu8455Pro
XM_006715409.1:c.25355T>C	XP_006715472.1:p.Leu8452Pro
XM_006715410.1:c.25376T>C	XP_006715473.1:p.Leu8459Pro
XM_006715411.1:c.25325T>C	XP_006715474.1:p.Leu8442Pro
XM_006715412.1:c.25361T>C	XP_006715475.1:p.Leu8454Pro
XM_006715413.1:c.25307T>C	XP_006715476.1:p.Leu8436Pro
XM_006715414.1:c.25304T>C	XP_006715477.1:p.Leu8435Pro
XM_006715415.1:c.25307T>C	XP_006715478.1:p.Leu8436Pro
XM_006715416.1:c.25292T>C	XP_006715479.1:p.Leu8431Pro
XM_006715417.1:c.25235T>C	XP_006715480.1:p.Leu8412Pro
XM_006715420.1:c.25223T>C	XP_006715483.1:p.Leu8408Pro
XM_006715421.1:c.25220T>C	XP_006715484.1:p.Leu8407Pro
XM_006715422.1:c.25217T>C	XP_006715485.1:p.Leu8406Pro
XM_006715423.1:c.25376T>C	XP_006715486.1:p.Leu8459Pro
XM_006715424.1:c.25376T>C	XP_006715487.1:p.Leu8459Pro
XM_006715425.1:c.25307T>C	XP_006715488.1:p.Leu8436Pro
XM_011535641.1:c.25373T>C	XP_011533943.1:p.Leu8458Pro
XM_011535642.1:c.25361T>C	XP_011533944.1:p.Leu8454Pro
XM_011535643.1:c.25211T>C	XP_011533945.1:p.Leu8404Pro
XM_011535644.1:c.23651T>C	XP_011533946.1:p.Leu7884Pro
XM_011535645.1:c.23144T>C	XP_011533947.1:p.Leu7715Pro
XM_011535647.1:c.18611T>C	XP_011533949.1:p.Leu6204Pro
NM_001347701.1:c.1877T>C	NP_001334630.1:p.Leu626Pro
NM_001347702.1:c.1805T>C	NP_001334631.1:p.Leu602Pro
XM_006715408.2:c.25364T>C	XP_006715471.1:p.Leu8455Pro
XM_006715410.2:c.25376T>C	XP_006715473.1:p.Leu8459Pro
XM_006715412.2:c.25361T>C	XP_006715475.1:p.Leu8454Pro
XM_006715413.2:c.25307T>C	XP_006715476.1:p.Leu8436Pro
XM_006715415.2:c.25307T>C	XP_006715478.1:p.Leu8436Pro
XM_006715416.2:c.25292T>C	XP_006715479.1:p.Leu8431Pro
XM_006715417.2:c.25235T>C	XP_006715480.1:p.Leu8412Pro
XM_006715420.2:c.25223T>C	XP_006715483.1:p.Leu8408Pro
XM_006715421.2:c.25220T>C	XP_006715484.1:p.Leu8407Pro
XM_006715423.2:c.25376T>C	XP_006715486.1:p.Leu8459Pro
XM_006715424.2:c.25376T>C	XP_006715487.1:p.Leu8459Pro
XM_006715425.2:c.25307T>C	XP_006715488.1:p.Leu8436Pro
XM_011535641.2:c.25373T>C	XP_011533943.1:p.Leu8458Pro
XM_011535642.2:c.25361T>C	XP_011533944.1:p.Leu8454Pro
XM_011535645.2:c.23144T>C	XP_011533947.1:p.Leu7715Pro
XM_017010608.1:c.25376T>C	XP_016866097.1:p.Leu8459Pro
XM_017010609.1:c.25376T>C	XP_016866098.1:p.Leu8459Pro
XM_017010610.1:c.25355T>C	XP_016866099.1:p.Leu8452Pro
XM_017010611.2:c.25349T>C	XP_016866100.1:p.Leu8450Pro
XM_017010612.1:c.25298T>C	XP_016866101.1:p.Leu8433Pro
XM_017010613.1:c.25304T>C	XP_016866102.1:p.Leu8435Pro
XM_017010614.1:c.25220T>C	XP_016866103.1:p.Leu8407Pro
XM_017010615.1:c.25151T>C	XP_016866104.1:p.Leu8384Pro
XM_017010616.1:c.25307T>C	XP_016866105.1:p.Leu8436Pro
XM_017010617.1:c.25304T>C	XP_016866106.1:p.Leu8435Pro
XM_017010618.1:c.25292T>C	XP_016866107.1:p.Leu8431Pro
XM_017010619.1:c.23651T>C	XP_016866108.1:p.Leu7884Pro
NM_182961.4:c.25271T>C MANE Select	NP_892006.3:p.Leu8424Pro
NM_001347701.2:c.1877T>C	NP_001334630.1:p.Leu626Pro
NM_001347702.2:c.1805T>C MANE Plus Clinical	NP_001334631.1:p.Leu602Pro
NM_033071.5:c.25127T>C	NP_149062.2:p.Leu8376Pro