Canonical Allele Identifier: CA366079922

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461089A>C (hg19) ; chr6:g.152139954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139954A>C , CM000668.2:g.152139954A>C	GRCh38
NC_000006.11:g.152461089A>C , CM000668.1:g.152461089A>C	GRCh37
NC_000006.10:g.152502782A>C	NCBI36
NG_012855.1:g.502446T>G
NG_012855.2:g.502446T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1988T>G MANE Plus Clinical	ENSP00000346701.4:p.Leu663Arg
ENST00000367255.10:c.25454T>G MANE Select	ENSP00000356224.5:p.Leu8485Arg
ENST00000423061.6:c.25310T>G	ENSP00000396024.1:p.Leu8437Arg
ENST00000672154.1:c.856T>G
ENST00000672169.1:c.1189T>G
ENST00000673173.1:c.1098T>G
ENST00000673451.1:c.1226T>G	ENSP00000500189.1:p.Leu409Arg
ENST00000341594.9:c.24239T>G	ENSP00000341887.6:p.Leu8080Arg
ENST00000347037.9:n.2202T>G
ENST00000354674.4:c.1988T>G	ENSP00000346701.4:p.Leu663Arg
ENST00000367251.7:c.4289T>G	ENSP00000356220.3:p.Leu1430Arg
ENST00000367255.9:c.25454T>G	ENSP00000356224.5:p.Leu8485Arg
ENST00000367256.9:n.9146T>G
ENST00000367257.8:c.3392T>G	ENSP00000356226.4:p.Leu1131Arg
ENST00000409694.6:n.9038T>G
ENST00000423061.5:c.25310T>G	ENSP00000396024.1:p.Leu8437Arg
ENST00000460912.6:n.2068T>G
ENST00000478916.5:n.4476T>G
ENST00000536990.5:n.2291T>G
ENST00000539504.5:c.1919T>G	ENSP00000441052.1:p.Leu640Arg
NM_033071.3:c.25310T>G	NP_149062.1:p.Leu8437Arg
NM_182961.3:c.25454T>G	NP_892006.3:p.Leu8485Arg
XM_006715407.1:c.25559T>G	XP_006715470.1:p.Leu8520Arg
XM_006715408.1:c.25547T>G	XP_006715471.1:p.Leu8516Arg
XM_006715409.1:c.25538T>G	XP_006715472.1:p.Leu8513Arg
XM_006715410.1:c.25559T>G	XP_006715473.1:p.Leu8520Arg
XM_006715411.1:c.25508T>G	XP_006715474.1:p.Leu8503Arg
XM_006715412.1:c.25544T>G	XP_006715475.1:p.Leu8515Arg
XM_006715413.1:c.25490T>G	XP_006715476.1:p.Leu8497Arg
XM_006715414.1:c.25487T>G	XP_006715477.1:p.Leu8496Arg
XM_006715415.1:c.25490T>G	XP_006715478.1:p.Leu8497Arg
XM_006715416.1:c.25475T>G	XP_006715479.1:p.Leu8492Arg
XM_006715417.1:c.25418T>G	XP_006715480.1:p.Leu8473Arg
XM_006715420.1:c.25406T>G	XP_006715483.1:p.Leu8469Arg
XM_006715421.1:c.25403T>G	XP_006715484.1:p.Leu8468Arg
XM_006715422.1:c.25400T>G	XP_006715485.1:p.Leu8467Arg
XM_006715423.1:c.25559T>G	XP_006715486.1:p.Leu8520Arg
XM_006715424.1:c.25559T>G	XP_006715487.1:p.Leu8520Arg
XM_006715425.1:c.25490T>G	XP_006715488.1:p.Leu8497Arg
XM_011535641.1:c.25556T>G	XP_011533943.1:p.Leu8519Arg
XM_011535642.1:c.25544T>G	XP_011533944.1:p.Leu8515Arg
XM_011535643.1:c.25394T>G	XP_011533945.1:p.Leu8465Arg
XM_011535644.1:c.23834T>G	XP_011533946.1:p.Leu7945Arg
XM_011535645.1:c.23327T>G	XP_011533947.1:p.Leu7776Arg
XM_011535647.1:c.18794T>G	XP_011533949.1:p.Leu6265Arg
NM_001347701.1:c.2060T>G	NP_001334630.1:p.Leu687Arg
NM_001347702.1:c.1988T>G	NP_001334631.1:p.Leu663Arg
XM_006715408.2:c.25547T>G	XP_006715471.1:p.Leu8516Arg
XM_006715410.2:c.25559T>G	XP_006715473.1:p.Leu8520Arg
XM_006715412.2:c.25544T>G	XP_006715475.1:p.Leu8515Arg
XM_006715413.2:c.25490T>G	XP_006715476.1:p.Leu8497Arg
XM_006715415.2:c.25490T>G	XP_006715478.1:p.Leu8497Arg
XM_006715416.2:c.25475T>G	XP_006715479.1:p.Leu8492Arg
XM_006715417.2:c.25418T>G	XP_006715480.1:p.Leu8473Arg
XM_006715420.2:c.25406T>G	XP_006715483.1:p.Leu8469Arg
XM_006715421.2:c.25403T>G	XP_006715484.1:p.Leu8468Arg
XM_006715423.2:c.25559T>G	XP_006715486.1:p.Leu8520Arg
XM_006715424.2:c.25559T>G	XP_006715487.1:p.Leu8520Arg
XM_006715425.2:c.25490T>G	XP_006715488.1:p.Leu8497Arg
XM_011535641.2:c.25556T>G	XP_011533943.1:p.Leu8519Arg
XM_011535642.2:c.25544T>G	XP_011533944.1:p.Leu8515Arg
XM_011535645.2:c.23327T>G	XP_011533947.1:p.Leu7776Arg
XM_017010608.1:c.25559T>G	XP_016866097.1:p.Leu8520Arg
XM_017010609.1:c.25559T>G	XP_016866098.1:p.Leu8520Arg
XM_017010610.1:c.25538T>G	XP_016866099.1:p.Leu8513Arg
XM_017010611.2:c.25532T>G	XP_016866100.1:p.Leu8511Arg
XM_017010612.1:c.25481T>G	XP_016866101.1:p.Leu8494Arg
XM_017010613.1:c.25487T>G	XP_016866102.1:p.Leu8496Arg
XM_017010614.1:c.25403T>G	XP_016866103.1:p.Leu8468Arg
XM_017010615.1:c.25334T>G	XP_016866104.1:p.Leu8445Arg
XM_017010616.1:c.25490T>G	XP_016866105.1:p.Leu8497Arg
XM_017010617.1:c.25487T>G	XP_016866106.1:p.Leu8496Arg
XM_017010618.1:c.25475T>G	XP_016866107.1:p.Leu8492Arg
XM_017010619.1:c.23834T>G	XP_016866108.1:p.Leu7945Arg
NM_182961.4:c.25454T>G MANE Select	NP_892006.3:p.Leu8485Arg
NM_001347701.2:c.2060T>G	NP_001334630.1:p.Leu687Arg
NM_001347702.2:c.1988T>G MANE Plus Clinical	NP_001334631.1:p.Leu663Arg
NM_033071.5:c.25310T>G	NP_149062.2:p.Leu8437Arg