Canonical Allele Identifier: CA366083298

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152143744-G-A
• MyVariant Identifiers: chr6:g.152464879G>A (hg19) ; chr6:g.152143744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143744G>A , CM000668.2:g.152143744G>A	GRCh38
NC_000006.11:g.152464879G>A , CM000668.1:g.152464879G>A	GRCh37
NC_000006.10:g.152506572G>A	NCBI36
NG_012855.1:g.498656C>T
NG_012855.2:g.498656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1532C>T MANE Plus Clinical	ENSP00000346701.4:p.Ser511Leu
ENST00000367255.10:c.24998C>T MANE Select	ENSP00000356224.5:p.Ser8333Leu
ENST00000423061.6:c.24854C>T	ENSP00000396024.1:p.Ser8285Leu
ENST00000672154.1:c.400C>T
ENST00000672169.1:c.733C>T
ENST00000673173.1:c.891-3583C>T
ENST00000673451.1:c.770C>T	ENSP00000500189.1:p.Ser257Leu
ENST00000341594.9:c.23783C>T	ENSP00000341887.6:p.Ser7928Leu
ENST00000347037.9:n.1746C>T
ENST00000354674.4:c.1532C>T	ENSP00000346701.4:p.Ser511Leu
ENST00000367251.7:c.3833C>T	ENSP00000356220.3:p.Ser1278Leu
ENST00000367255.9:c.24998C>T	ENSP00000356224.5:p.Ser8333Leu
ENST00000367256.9:n.8690C>T
ENST00000367257.8:c.2936C>T	ENSP00000356226.4:p.Ser979Leu
ENST00000409694.6:n.8582C>T
ENST00000423061.5:c.24854C>T	ENSP00000396024.1:p.Ser8285Leu
ENST00000460912.6:n.1612C>T
ENST00000478916.5:n.4020C>T
ENST00000536990.5:n.1835C>T
ENST00000539504.5:c.1463C>T	ENSP00000441052.1:p.Ser488Leu
NM_033071.3:c.24854C>T	NP_149062.1:p.Ser8285Leu
NM_182961.3:c.24998C>T	NP_892006.3:p.Ser8333Leu
XM_006715407.1:c.25103C>T	XP_006715470.1:p.Ser8368Leu
XM_006715408.1:c.25091C>T	XP_006715471.1:p.Ser8364Leu
XM_006715409.1:c.25082C>T	XP_006715472.1:p.Ser8361Leu
XM_006715410.1:c.25103C>T	XP_006715473.1:p.Ser8368Leu
XM_006715411.1:c.25052C>T	XP_006715474.1:p.Ser8351Leu
XM_006715412.1:c.25088C>T	XP_006715475.1:p.Ser8363Leu
XM_006715413.1:c.25034C>T	XP_006715476.1:p.Ser8345Leu
XM_006715414.1:c.25031C>T	XP_006715477.1:p.Ser8344Leu
XM_006715415.1:c.25034C>T	XP_006715478.1:p.Ser8345Leu
XM_006715416.1:c.25019C>T	XP_006715479.1:p.Ser8340Leu
XM_006715417.1:c.24962C>T	XP_006715480.1:p.Ser8321Leu
XM_006715420.1:c.24950C>T	XP_006715483.1:p.Ser8317Leu
XM_006715421.1:c.24947C>T	XP_006715484.1:p.Ser8316Leu
XM_006715422.1:c.24944C>T	XP_006715485.1:p.Ser8315Leu
XM_006715423.1:c.25103C>T	XP_006715486.1:p.Ser8368Leu
XM_006715424.1:c.25103C>T	XP_006715487.1:p.Ser8368Leu
XM_006715425.1:c.25034C>T	XP_006715488.1:p.Ser8345Leu
XM_011535641.1:c.25100C>T	XP_011533943.1:p.Ser8367Leu
XM_011535642.1:c.25088C>T	XP_011533944.1:p.Ser8363Leu
XM_011535643.1:c.24938C>T	XP_011533945.1:p.Ser8313Leu
XM_011535644.1:c.23378C>T	XP_011533946.1:p.Ser7793Leu
XM_011535645.1:c.22871C>T	XP_011533947.1:p.Ser7624Leu
XM_011535647.1:c.18338C>T	XP_011533949.1:p.Ser6113Leu
NM_001347701.1:c.1604C>T	NP_001334630.1:p.Ser535Leu
NM_001347702.1:c.1532C>T	NP_001334631.1:p.Ser511Leu
XM_006715408.2:c.25091C>T	XP_006715471.1:p.Ser8364Leu
XM_006715410.2:c.25103C>T	XP_006715473.1:p.Ser8368Leu
XM_006715412.2:c.25088C>T	XP_006715475.1:p.Ser8363Leu
XM_006715413.2:c.25034C>T	XP_006715476.1:p.Ser8345Leu
XM_006715415.2:c.25034C>T	XP_006715478.1:p.Ser8345Leu
XM_006715416.2:c.25019C>T	XP_006715479.1:p.Ser8340Leu
XM_006715417.2:c.24962C>T	XP_006715480.1:p.Ser8321Leu
XM_006715420.2:c.24950C>T	XP_006715483.1:p.Ser8317Leu
XM_006715421.2:c.24947C>T	XP_006715484.1:p.Ser8316Leu
XM_006715423.2:c.25103C>T	XP_006715486.1:p.Ser8368Leu
XM_006715424.2:c.25103C>T	XP_006715487.1:p.Ser8368Leu
XM_006715425.2:c.25034C>T	XP_006715488.1:p.Ser8345Leu
XM_011535641.2:c.25100C>T	XP_011533943.1:p.Ser8367Leu
XM_011535642.2:c.25088C>T	XP_011533944.1:p.Ser8363Leu
XM_011535645.2:c.22871C>T	XP_011533947.1:p.Ser7624Leu
XM_017010608.1:c.25103C>T	XP_016866097.1:p.Ser8368Leu
XM_017010609.1:c.25103C>T	XP_016866098.1:p.Ser8368Leu
XM_017010610.1:c.25082C>T	XP_016866099.1:p.Ser8361Leu
XM_017010611.2:c.25076C>T	XP_016866100.1:p.Ser8359Leu
XM_017010612.1:c.25025C>T	XP_016866101.1:p.Ser8342Leu
XM_017010613.1:c.25031C>T	XP_016866102.1:p.Ser8344Leu
XM_017010614.1:c.24947C>T	XP_016866103.1:p.Ser8316Leu
XM_017010615.1:c.24878C>T	XP_016866104.1:p.Ser8293Leu
XM_017010616.1:c.25034C>T	XP_016866105.1:p.Ser8345Leu
XM_017010617.1:c.25031C>T	XP_016866106.1:p.Ser8344Leu
XM_017010618.1:c.25019C>T	XP_016866107.1:p.Ser8340Leu
XM_017010619.1:c.23378C>T	XP_016866108.1:p.Ser7793Leu
NM_182961.4:c.24998C>T MANE Select	NP_892006.3:p.Ser8333Leu
NM_001347701.2:c.1604C>T	NP_001334630.1:p.Ser535Leu
NM_001347702.2:c.1532C>T MANE Plus Clinical	NP_001334631.1:p.Ser511Leu
NM_033071.5:c.24854C>T	NP_149062.2:p.Ser8285Leu