Canonical Allele Identifier: CA16603269
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377101
ClinVar RCV Id: RCV000445042 RCV001207733
dbSNP Id: rs1057520134
COSMIC: COSM4604646 COSM4604647 COSM4604648 COSM4604649 COSM4604650
MyVariant Identifiers: chr6:g.152560836G>C (hg19) chr6:g.152239701G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152239701G>C , CM000668.2:g.152239701G>C GRCh38
NC_000006.11:g.152560836G>C , CM000668.1:g.152560836G>C GRCh37
NC_000006.10:g.152602529G>C NCBI36
NG_012855.1:g.402699C>G
NG_012855.2:g.402699C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.19899C>G MANE Select ENSP00000356224.5:p.Tyr6633Ter
ENST00000423061.6:c.19686C>G ENSP00000396024.1:p.Tyr6562Ter
ENST00000341594.9:c.18684C>G ENSP00000341887.6:p.Tyr6228Ter
ENST00000367255.9:c.19899C>G ENSP00000356224.5:p.Tyr6633Ter
ENST00000367256.9:n.3591C>G
ENST00000409694.6:n.3483C>G
ENST00000423061.5:c.19686C>G ENSP00000396024.1:p.Tyr6562Ter
NM_033071.3:c.19686C>G NP_149062.1:p.Tyr6562Ter
NM_182961.3:c.19899C>G NP_892006.3:p.Tyr6633Ter
XM_006715407.1:c.19935C>G XP_006715470.1:p.Tyr6645Ter
XM_006715408.1:c.19923C>G XP_006715471.1:p.Tyr6641Ter
XM_006715409.1:c.19914C>G XP_006715472.1:p.Tyr6638Ter
XM_006715410.1:c.19935C>G XP_006715473.1:p.Tyr6645Ter
XM_006715411.1:c.19884C>G XP_006715474.1:p.Tyr6628Ter
XM_006715412.1:c.19920C>G XP_006715475.1:p.Tyr6640Ter
XM_006715413.1:c.19935C>G XP_006715476.1:p.Tyr6645Ter
XM_006715414.1:c.19863C>G XP_006715477.1:p.Tyr6621Ter
XM_006715415.1:c.19935C>G XP_006715478.1:p.Tyr6645Ter
XM_006715416.1:c.19920C>G XP_006715479.1:p.Tyr6640Ter
XM_006715417.1:c.19794C>G XP_006715480.1:p.Tyr6598Ter
XM_006715420.1:c.19782C>G XP_006715483.1:p.Tyr6594Ter
XM_006715421.1:c.19779C>G XP_006715484.1:p.Tyr6593Ter
XM_006715422.1:c.19776C>G XP_006715485.1:p.Tyr6592Ter
XM_006715423.1:c.19935C>G XP_006715486.1:p.Tyr6645Ter
XM_006715424.1:c.19935C>G XP_006715487.1:p.Tyr6645Ter
XM_006715425.1:c.19935C>G XP_006715488.1:p.Tyr6645Ter
XM_011535641.1:c.19932C>G XP_011533943.1:p.Tyr6644Ter
XM_011535642.1:c.19920C>G XP_011533944.1:p.Tyr6640Ter
XM_011535643.1:c.19770C>G XP_011533945.1:p.Tyr6590Ter
XM_011535644.1:c.18210C>G XP_011533946.1:p.Tyr6070Ter
XM_011535645.1:c.17703C>G XP_011533947.1:p.Tyr5901Ter
XM_011535647.1:c.13170C>G XP_011533949.1:p.Tyr4390Ter
XM_006715408.2:c.19923C>G XP_006715471.1:p.Tyr6641Ter
XM_006715410.2:c.19935C>G XP_006715473.1:p.Tyr6645Ter
XM_006715412.2:c.19920C>G XP_006715475.1:p.Tyr6640Ter
XM_006715413.2:c.19935C>G XP_006715476.1:p.Tyr6645Ter
XM_006715415.2:c.19935C>G XP_006715478.1:p.Tyr6645Ter
XM_006715416.2:c.19920C>G XP_006715479.1:p.Tyr6640Ter
XM_006715417.2:c.19794C>G XP_006715480.1:p.Tyr6598Ter
XM_006715420.2:c.19782C>G XP_006715483.1:p.Tyr6594Ter
XM_006715421.2:c.19779C>G XP_006715484.1:p.Tyr6593Ter
XM_006715423.2:c.19935C>G XP_006715486.1:p.Tyr6645Ter
XM_006715424.2:c.19935C>G XP_006715487.1:p.Tyr6645Ter
XM_006715425.2:c.19935C>G XP_006715488.1:p.Tyr6645Ter
XM_011535641.2:c.19932C>G XP_011533943.1:p.Tyr6644Ter
XM_011535642.2:c.19920C>G XP_011533944.1:p.Tyr6640Ter
XM_011535645.2:c.17703C>G XP_011533947.1:p.Tyr5901Ter
XM_017010608.1:c.19935C>G XP_016866097.1:p.Tyr6645Ter
XM_017010609.1:c.19935C>G XP_016866098.1:p.Tyr6645Ter
XM_017010610.1:c.19914C>G XP_016866099.1:p.Tyr6638Ter
XM_017010611.2:c.19908C>G XP_016866100.1:p.Tyr6636Ter
XM_017010612.1:c.19857C>G XP_016866101.1:p.Tyr6619Ter
XM_017010613.1:c.19932C>G XP_016866102.1:p.Tyr6644Ter
XM_017010614.1:c.19779C>G XP_016866103.1:p.Tyr6593Ter
XM_017010615.1:c.19779C>G XP_016866104.1:p.Tyr6593Ter
XM_017010616.1:c.19935C>G XP_016866105.1:p.Tyr6645Ter
XM_017010617.1:c.19932C>G XP_016866106.1:p.Tyr6644Ter
XM_017010618.1:c.19920C>G XP_016866107.1:p.Tyr6640Ter
XM_017010619.1:c.18210C>G XP_016866108.1:p.Tyr6070Ter
XR_001743287.1:n.20453C>G
NM_182961.4:c.19899C>G MANE Select NP_892006.3:p.Tyr6633Ter
NM_033071.5:c.19686C>G NP_149062.2:p.Tyr6562Ter
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