Canonical Allele Identifier: CA452747051

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152141204-A-G
• MyVariant Identifiers: chr6:g.152462339A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141204A>G , CM000668.2:g.152141204A>G	GRCh38
NC_000006.11:g.152462339A>G , CM000668.1:g.152462339A>G	GRCh37
NC_000006.10:g.152504032A>G	NCBI36
NG_012855.1:g.501196T>C
NG_012855.2:g.501196T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1779T>C MANE Plus Clinical	ENSP00000346701.4:p.Ala593=
ENST00000367255.10:c.25245T>C MANE Select	ENSP00000356224.5:p.Ala8415=
ENST00000423061.6:c.25101T>C	ENSP00000396024.1:p.Ala8367=
ENST00000672154.1:c.647T>C
ENST00000672169.1:c.980T>C
ENST00000673173.1:c.891-1043T>C
ENST00000673451.1:c.1017T>C	ENSP00000500189.1:p.Ala339=
ENST00000341594.9:c.24030T>C	ENSP00000341887.6:p.Ala8010=
ENST00000347037.9:n.1993T>C
ENST00000354674.4:c.1779T>C	ENSP00000346701.4:p.Ala593=
ENST00000367251.7:c.4080T>C	ENSP00000356220.3:p.Ala1360=
ENST00000367255.9:c.25245T>C	ENSP00000356224.5:p.Ala8415=
ENST00000367256.9:n.8937T>C
ENST00000367257.8:c.3183T>C	ENSP00000356226.4:p.Ala1061=
ENST00000409694.6:n.8829T>C
ENST00000423061.5:c.25101T>C	ENSP00000396024.1:p.Ala8367=
ENST00000460912.6:n.1859T>C
ENST00000478916.5:n.4267T>C
ENST00000536990.5:n.2082T>C
ENST00000539504.5:c.1710T>C	ENSP00000441052.1:p.Ala570=
NM_033071.3:c.25101T>C	NP_149062.1:p.Ala8367=
NM_182961.3:c.25245T>C	NP_892006.3:p.Ala8415=
XM_006715407.1:c.25350T>C	XP_006715470.1:p.Ala8450=
XM_006715408.1:c.25338T>C	XP_006715471.1:p.Ala8446=
XM_006715409.1:c.25329T>C	XP_006715472.1:p.Ala8443=
XM_006715410.1:c.25350T>C	XP_006715473.1:p.Ala8450=
XM_006715411.1:c.25299T>C	XP_006715474.1:p.Ala8433=
XM_006715412.1:c.25335T>C	XP_006715475.1:p.Ala8445=
XM_006715413.1:c.25281T>C	XP_006715476.1:p.Ala8427=
XM_006715414.1:c.25278T>C	XP_006715477.1:p.Ala8426=
XM_006715415.1:c.25281T>C	XP_006715478.1:p.Ala8427=
XM_006715416.1:c.25266T>C	XP_006715479.1:p.Ala8422=
XM_006715417.1:c.25209T>C	XP_006715480.1:p.Ala8403=
XM_006715420.1:c.25197T>C	XP_006715483.1:p.Ala8399=
XM_006715421.1:c.25194T>C	XP_006715484.1:p.Ala8398=
XM_006715422.1:c.25191T>C	XP_006715485.1:p.Ala8397=
XM_006715423.1:c.25350T>C	XP_006715486.1:p.Ala8450=
XM_006715424.1:c.25350T>C	XP_006715487.1:p.Ala8450=
XM_006715425.1:c.25281T>C	XP_006715488.1:p.Ala8427=
XM_011535641.1:c.25347T>C	XP_011533943.1:p.Ala8449=
XM_011535642.1:c.25335T>C	XP_011533944.1:p.Ala8445=
XM_011535643.1:c.25185T>C	XP_011533945.1:p.Ala8395=
XM_011535644.1:c.23625T>C	XP_011533946.1:p.Ala7875=
XM_011535645.1:c.23118T>C	XP_011533947.1:p.Ala7706=
XM_011535647.1:c.18585T>C	XP_011533949.1:p.Ala6195=
NM_001347701.1:c.1851T>C	NP_001334630.1:p.Ala617=
NM_001347702.1:c.1779T>C	NP_001334631.1:p.Ala593=
XM_006715408.2:c.25338T>C	XP_006715471.1:p.Ala8446=
XM_006715410.2:c.25350T>C	XP_006715473.1:p.Ala8450=
XM_006715412.2:c.25335T>C	XP_006715475.1:p.Ala8445=
XM_006715413.2:c.25281T>C	XP_006715476.1:p.Ala8427=
XM_006715415.2:c.25281T>C	XP_006715478.1:p.Ala8427=
XM_006715416.2:c.25266T>C	XP_006715479.1:p.Ala8422=
XM_006715417.2:c.25209T>C	XP_006715480.1:p.Ala8403=
XM_006715420.2:c.25197T>C	XP_006715483.1:p.Ala8399=
XM_006715421.2:c.25194T>C	XP_006715484.1:p.Ala8398=
XM_006715423.2:c.25350T>C	XP_006715486.1:p.Ala8450=
XM_006715424.2:c.25350T>C	XP_006715487.1:p.Ala8450=
XM_006715425.2:c.25281T>C	XP_006715488.1:p.Ala8427=
XM_011535641.2:c.25347T>C	XP_011533943.1:p.Ala8449=
XM_011535642.2:c.25335T>C	XP_011533944.1:p.Ala8445=
XM_011535645.2:c.23118T>C	XP_011533947.1:p.Ala7706=
XM_017010608.1:c.25350T>C	XP_016866097.1:p.Ala8450=
XM_017010609.1:c.25350T>C	XP_016866098.1:p.Ala8450=
XM_017010610.1:c.25329T>C	XP_016866099.1:p.Ala8443=
XM_017010611.2:c.25323T>C	XP_016866100.1:p.Ala8441=
XM_017010612.1:c.25272T>C	XP_016866101.1:p.Ala8424=
XM_017010613.1:c.25278T>C	XP_016866102.1:p.Ala8426=
XM_017010614.1:c.25194T>C	XP_016866103.1:p.Ala8398=
XM_017010615.1:c.25125T>C	XP_016866104.1:p.Ala8375=
XM_017010616.1:c.25281T>C	XP_016866105.1:p.Ala8427=
XM_017010617.1:c.25278T>C	XP_016866106.1:p.Ala8426=
XM_017010618.1:c.25266T>C	XP_016866107.1:p.Ala8422=
XM_017010619.1:c.23625T>C	XP_016866108.1:p.Ala7875=
NM_182961.4:c.25245T>C MANE Select	NP_892006.3:p.Ala8415=
NM_001347701.2:c.1851T>C	NP_001334630.1:p.Ala617=
NM_001347702.2:c.1779T>C MANE Plus Clinical	NP_001334631.1:p.Ala593=
NM_033071.5:c.25101T>C	NP_149062.2:p.Ala8367=