Canonical Allele Identifier: CA366080489

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461209A>G (hg19) ; chr6:g.152140074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140074A>G , CM000668.2:g.152140074A>G	GRCh38
NC_000006.11:g.152461209A>G , CM000668.1:g.152461209A>G	GRCh37
NC_000006.10:g.152502902A>G	NCBI36
NG_012855.1:g.502326T>C
NG_012855.2:g.502326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1868T>C MANE Plus Clinical	ENSP00000346701.4:p.Phe623Ser
ENST00000367255.10:c.25334T>C MANE Select	ENSP00000356224.5:p.Phe8445Ser
ENST00000423061.6:c.25190T>C	ENSP00000396024.1:p.Phe8397Ser
ENST00000672154.1:c.736T>C
ENST00000672169.1:c.1069T>C
ENST00000673173.1:c.978T>C
ENST00000673451.1:c.1106T>C	ENSP00000500189.1:p.Phe369Ser
ENST00000341594.9:c.24119T>C	ENSP00000341887.6:p.Phe8040Ser
ENST00000347037.9:n.2082T>C
ENST00000354674.4:c.1868T>C	ENSP00000346701.4:p.Phe623Ser
ENST00000367251.7:c.4169T>C	ENSP00000356220.3:p.Phe1390Ser
ENST00000367255.9:c.25334T>C	ENSP00000356224.5:p.Phe8445Ser
ENST00000367256.9:n.9026T>C
ENST00000367257.8:c.3272T>C	ENSP00000356226.4:p.Phe1091Ser
ENST00000409694.6:n.8918T>C
ENST00000423061.5:c.25190T>C	ENSP00000396024.1:p.Phe8397Ser
ENST00000460912.6:n.1948T>C
ENST00000478916.5:n.4356T>C
ENST00000536990.5:n.2171T>C
ENST00000539504.5:c.1799T>C	ENSP00000441052.1:p.Phe600Ser
NM_033071.3:c.25190T>C	NP_149062.1:p.Phe8397Ser
NM_182961.3:c.25334T>C	NP_892006.3:p.Phe8445Ser
XM_006715407.1:c.25439T>C	XP_006715470.1:p.Phe8480Ser
XM_006715408.1:c.25427T>C	XP_006715471.1:p.Phe8476Ser
XM_006715409.1:c.25418T>C	XP_006715472.1:p.Phe8473Ser
XM_006715410.1:c.25439T>C	XP_006715473.1:p.Phe8480Ser
XM_006715411.1:c.25388T>C	XP_006715474.1:p.Phe8463Ser
XM_006715412.1:c.25424T>C	XP_006715475.1:p.Phe8475Ser
XM_006715413.1:c.25370T>C	XP_006715476.1:p.Phe8457Ser
XM_006715414.1:c.25367T>C	XP_006715477.1:p.Phe8456Ser
XM_006715415.1:c.25370T>C	XP_006715478.1:p.Phe8457Ser
XM_006715416.1:c.25355T>C	XP_006715479.1:p.Phe8452Ser
XM_006715417.1:c.25298T>C	XP_006715480.1:p.Phe8433Ser
XM_006715420.1:c.25286T>C	XP_006715483.1:p.Phe8429Ser
XM_006715421.1:c.25283T>C	XP_006715484.1:p.Phe8428Ser
XM_006715422.1:c.25280T>C	XP_006715485.1:p.Phe8427Ser
XM_006715423.1:c.25439T>C	XP_006715486.1:p.Phe8480Ser
XM_006715424.1:c.25439T>C	XP_006715487.1:p.Phe8480Ser
XM_006715425.1:c.25370T>C	XP_006715488.1:p.Phe8457Ser
XM_011535641.1:c.25436T>C	XP_011533943.1:p.Phe8479Ser
XM_011535642.1:c.25424T>C	XP_011533944.1:p.Phe8475Ser
XM_011535643.1:c.25274T>C	XP_011533945.1:p.Phe8425Ser
XM_011535644.1:c.23714T>C	XP_011533946.1:p.Phe7905Ser
XM_011535645.1:c.23207T>C	XP_011533947.1:p.Phe7736Ser
XM_011535647.1:c.18674T>C	XP_011533949.1:p.Phe6225Ser
NM_001347701.1:c.1940T>C	NP_001334630.1:p.Phe647Ser
NM_001347702.1:c.1868T>C	NP_001334631.1:p.Phe623Ser
XM_006715408.2:c.25427T>C	XP_006715471.1:p.Phe8476Ser
XM_006715410.2:c.25439T>C	XP_006715473.1:p.Phe8480Ser
XM_006715412.2:c.25424T>C	XP_006715475.1:p.Phe8475Ser
XM_006715413.2:c.25370T>C	XP_006715476.1:p.Phe8457Ser
XM_006715415.2:c.25370T>C	XP_006715478.1:p.Phe8457Ser
XM_006715416.2:c.25355T>C	XP_006715479.1:p.Phe8452Ser
XM_006715417.2:c.25298T>C	XP_006715480.1:p.Phe8433Ser
XM_006715420.2:c.25286T>C	XP_006715483.1:p.Phe8429Ser
XM_006715421.2:c.25283T>C	XP_006715484.1:p.Phe8428Ser
XM_006715423.2:c.25439T>C	XP_006715486.1:p.Phe8480Ser
XM_006715424.2:c.25439T>C	XP_006715487.1:p.Phe8480Ser
XM_006715425.2:c.25370T>C	XP_006715488.1:p.Phe8457Ser
XM_011535641.2:c.25436T>C	XP_011533943.1:p.Phe8479Ser
XM_011535642.2:c.25424T>C	XP_011533944.1:p.Phe8475Ser
XM_011535645.2:c.23207T>C	XP_011533947.1:p.Phe7736Ser
XM_017010608.1:c.25439T>C	XP_016866097.1:p.Phe8480Ser
XM_017010609.1:c.25439T>C	XP_016866098.1:p.Phe8480Ser
XM_017010610.1:c.25418T>C	XP_016866099.1:p.Phe8473Ser
XM_017010611.2:c.25412T>C	XP_016866100.1:p.Phe8471Ser
XM_017010612.1:c.25361T>C	XP_016866101.1:p.Phe8454Ser
XM_017010613.1:c.25367T>C	XP_016866102.1:p.Phe8456Ser
XM_017010614.1:c.25283T>C	XP_016866103.1:p.Phe8428Ser
XM_017010615.1:c.25214T>C	XP_016866104.1:p.Phe8405Ser
XM_017010616.1:c.25370T>C	XP_016866105.1:p.Phe8457Ser
XM_017010617.1:c.25367T>C	XP_016866106.1:p.Phe8456Ser
XM_017010618.1:c.25355T>C	XP_016866107.1:p.Phe8452Ser
XM_017010619.1:c.23714T>C	XP_016866108.1:p.Phe7905Ser
NM_182961.4:c.25334T>C MANE Select	NP_892006.3:p.Phe8445Ser
NM_001347701.2:c.1940T>C	NP_001334630.1:p.Phe647Ser
NM_001347702.2:c.1868T>C MANE Plus Clinical	NP_001334631.1:p.Phe623Ser
NM_033071.5:c.25190T>C	NP_149062.2:p.Phe8397Ser