Canonical Allele Identifier: CA366137031

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152368982-T-G
• MyVariant Identifiers: chr6:g.152690117T>G (hg19) ; chr6:g.152368982T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152368982T>G , CM000668.2:g.152368982T>G	GRCh38
NC_000006.11:g.152690117T>G , CM000668.1:g.152690117T>G	GRCh37
NC_000006.10:g.152731810T>G	NCBI36
NG_012855.1:g.273418A>C
NG_012855.2:g.273418A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454018.7:c.1148A>C	ENSP00000390858.4:p.Asn383Thr
ENST00000367255.10:c.9797A>C MANE Select	ENSP00000356224.5:p.Asn3266Thr
ENST00000423061.6:c.9818A>C	ENSP00000396024.1:p.Asn3273Thr
ENST00000341594.9:c.9863A>C	ENSP00000341887.6:p.Asn3288Thr
ENST00000367255.9:c.9797A>C	ENSP00000356224.5:p.Asn3266Thr
ENST00000423061.5:c.9818A>C	ENSP00000396024.1:p.Asn3273Thr
ENST00000454018.6:c.1145A>C	ENSP00000390858.3:p.Asn382Thr
ENST00000469439.1:c.244+489A>C
ENST00000471834.1:n.1346A>C
NM_033071.3:c.9818A>C	NP_149062.1:p.Asn3273Thr
NM_182961.3:c.9797A>C	NP_892006.3:p.Asn3266Thr
XM_006715407.1:c.9818A>C	XP_006715470.1:p.Asn3273Thr
XM_006715408.1:c.9818A>C	XP_006715471.1:p.Asn3273Thr
XM_006715409.1:c.9797A>C	XP_006715472.1:p.Asn3266Thr
XM_006715410.1:c.9818A>C	XP_006715473.1:p.Asn3273Thr
XM_006715411.1:c.9767A>C	XP_006715474.1:p.Asn3256Thr
XM_006715412.1:c.9818A>C	XP_006715475.1:p.Asn3273Thr
XM_006715413.1:c.9818A>C	XP_006715476.1:p.Asn3273Thr
XM_006715414.1:c.9746A>C	XP_006715477.1:p.Asn3249Thr
XM_006715415.1:c.9818A>C	XP_006715478.1:p.Asn3273Thr
XM_006715416.1:c.9818A>C	XP_006715479.1:p.Asn3273Thr
XM_006715417.1:c.9818A>C	XP_006715480.1:p.Asn3273Thr
XM_006715420.1:c.9818A>C	XP_006715483.1:p.Asn3273Thr
XM_006715421.1:c.9672+489A>C	XP_006715484.1:n.9672+489A>C
XM_006715422.1:c.9659A>C	XP_006715485.1:p.Asn3220Thr
XM_006715423.1:c.9818A>C	XP_006715486.1:p.Asn3273Thr
XM_006715424.1:c.9818A>C	XP_006715487.1:p.Asn3273Thr
XM_006715425.1:c.9818A>C	XP_006715488.1:p.Asn3273Thr
XM_011535641.1:c.9818A>C	XP_011533943.1:p.Asn3273Thr
XM_011535642.1:c.9818A>C	XP_011533944.1:p.Asn3273Thr
XM_011535643.1:c.9653A>C	XP_011533945.1:p.Asn3218Thr
XM_011535644.1:c.8093A>C	XP_011533946.1:p.Asn2698Thr
XM_011535645.1:c.7586A>C	XP_011533947.1:p.Asn2529Thr
XM_011535646.1:c.9818A>C	XP_011533948.1:p.Asn3273Thr
XM_011535647.1:c.3053A>C	XP_011533949.1:p.Asn1018Thr
XM_006715408.2:c.9818A>C	XP_006715471.1:p.Asn3273Thr
XM_006715410.2:c.9818A>C	XP_006715473.1:p.Asn3273Thr
XM_006715412.2:c.9818A>C	XP_006715475.1:p.Asn3273Thr
XM_006715413.2:c.9818A>C	XP_006715476.1:p.Asn3273Thr
XM_006715415.2:c.9818A>C	XP_006715478.1:p.Asn3273Thr
XM_006715416.2:c.9818A>C	XP_006715479.1:p.Asn3273Thr
XM_006715417.2:c.9818A>C	XP_006715480.1:p.Asn3273Thr
XM_006715420.2:c.9818A>C	XP_006715483.1:p.Asn3273Thr
XM_006715421.2:c.9672+489A>C	XP_006715484.1:n.9672+489A>C
XM_006715423.2:c.9818A>C	XP_006715486.1:p.Asn3273Thr
XM_006715424.2:c.9818A>C	XP_006715487.1:p.Asn3273Thr
XM_006715425.2:c.9818A>C	XP_006715488.1:p.Asn3273Thr
XM_011535641.2:c.9818A>C	XP_011533943.1:p.Asn3273Thr
XM_011535642.2:c.9818A>C	XP_011533944.1:p.Asn3273Thr
XM_011535645.2:c.7586A>C	XP_011533947.1:p.Asn2529Thr
XM_017010608.1:c.9818A>C	XP_016866097.1:p.Asn3273Thr
XM_017010609.1:c.9818A>C	XP_016866098.1:p.Asn3273Thr
XM_017010610.1:c.9797A>C	XP_016866099.1:p.Asn3266Thr
XM_017010611.2:c.9791A>C	XP_016866100.1:p.Asn3264Thr
XM_017010612.1:c.9740A>C	XP_016866101.1:p.Asn3247Thr
XM_017010613.1:c.9818A>C	XP_016866102.1:p.Asn3273Thr
XM_017010614.1:c.9818A>C	XP_016866103.1:p.Asn3273Thr
XM_017010615.1:c.9818A>C	XP_016866104.1:p.Asn3273Thr
XM_017010616.1:c.9818A>C	XP_016866105.1:p.Asn3273Thr
XM_017010617.1:c.9818A>C	XP_016866106.1:p.Asn3273Thr
XM_017010618.1:c.9818A>C	XP_016866107.1:p.Asn3273Thr
XM_017010619.1:c.8093A>C	XP_016866108.1:p.Asn2698Thr
XR_001743287.1:n.10301A>C
NM_182961.4:c.9797A>C MANE Select	NP_892006.3:p.Asn3266Thr
NM_033071.5:c.9818A>C	NP_149062.2:p.Asn3273Thr