Canonical Allele Identifier: CA366080633

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140094-G-C
• MyVariant Identifiers: chr6:g.152461229G>C (hg19) ; chr6:g.152140094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140094G>C , CM000668.2:g.152140094G>C	GRCh38
NC_000006.11:g.152461229G>C , CM000668.1:g.152461229G>C	GRCh37
NC_000006.10:g.152502922G>C	NCBI36
NG_012855.1:g.502306C>G
NG_012855.2:g.502306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1848C>G MANE Plus Clinical	ENSP00000346701.4:p.Asn616Lys
ENST00000367255.10:c.25314C>G MANE Select	ENSP00000356224.5:p.Asn8438Lys
ENST00000423061.6:c.25170C>G	ENSP00000396024.1:p.Asn8390Lys
ENST00000672154.1:c.716C>G
ENST00000672169.1:c.1049C>G
ENST00000673173.1:c.958C>G
ENST00000673451.1:c.1086C>G	ENSP00000500189.1:p.Asn362Lys
ENST00000341594.9:c.24099C>G	ENSP00000341887.6:p.Asn8033Lys
ENST00000347037.9:n.2062C>G
ENST00000354674.4:c.1848C>G	ENSP00000346701.4:p.Asn616Lys
ENST00000367251.7:c.4149C>G	ENSP00000356220.3:p.Asn1383Lys
ENST00000367255.9:c.25314C>G	ENSP00000356224.5:p.Asn8438Lys
ENST00000367256.9:n.9006C>G
ENST00000367257.8:c.3252C>G	ENSP00000356226.4:p.Asn1084Lys
ENST00000409694.6:n.8898C>G
ENST00000423061.5:c.25170C>G	ENSP00000396024.1:p.Asn8390Lys
ENST00000460912.6:n.1928C>G
ENST00000478916.5:n.4336C>G
ENST00000536990.5:n.2151C>G
ENST00000539504.5:c.1779C>G	ENSP00000441052.1:p.Asn593Lys
NM_033071.3:c.25170C>G	NP_149062.1:p.Asn8390Lys
NM_182961.3:c.25314C>G	NP_892006.3:p.Asn8438Lys
XM_006715407.1:c.25419C>G	XP_006715470.1:p.Asn8473Lys
XM_006715408.1:c.25407C>G	XP_006715471.1:p.Asn8469Lys
XM_006715409.1:c.25398C>G	XP_006715472.1:p.Asn8466Lys
XM_006715410.1:c.25419C>G	XP_006715473.1:p.Asn8473Lys
XM_006715411.1:c.25368C>G	XP_006715474.1:p.Asn8456Lys
XM_006715412.1:c.25404C>G	XP_006715475.1:p.Asn8468Lys
XM_006715413.1:c.25350C>G	XP_006715476.1:p.Asn8450Lys
XM_006715414.1:c.25347C>G	XP_006715477.1:p.Asn8449Lys
XM_006715415.1:c.25350C>G	XP_006715478.1:p.Asn8450Lys
XM_006715416.1:c.25335C>G	XP_006715479.1:p.Asn8445Lys
XM_006715417.1:c.25278C>G	XP_006715480.1:p.Asn8426Lys
XM_006715420.1:c.25266C>G	XP_006715483.1:p.Asn8422Lys
XM_006715421.1:c.25263C>G	XP_006715484.1:p.Asn8421Lys
XM_006715422.1:c.25260C>G	XP_006715485.1:p.Asn8420Lys
XM_006715423.1:c.25419C>G	XP_006715486.1:p.Asn8473Lys
XM_006715424.1:c.25419C>G	XP_006715487.1:p.Asn8473Lys
XM_006715425.1:c.25350C>G	XP_006715488.1:p.Asn8450Lys
XM_011535641.1:c.25416C>G	XP_011533943.1:p.Asn8472Lys
XM_011535642.1:c.25404C>G	XP_011533944.1:p.Asn8468Lys
XM_011535643.1:c.25254C>G	XP_011533945.1:p.Asn8418Lys
XM_011535644.1:c.23694C>G	XP_011533946.1:p.Asn7898Lys
XM_011535645.1:c.23187C>G	XP_011533947.1:p.Asn7729Lys
XM_011535647.1:c.18654C>G	XP_011533949.1:p.Asn6218Lys
NM_001347701.1:c.1920C>G	NP_001334630.1:p.Asn640Lys
NM_001347702.1:c.1848C>G	NP_001334631.1:p.Asn616Lys
XM_006715408.2:c.25407C>G	XP_006715471.1:p.Asn8469Lys
XM_006715410.2:c.25419C>G	XP_006715473.1:p.Asn8473Lys
XM_006715412.2:c.25404C>G	XP_006715475.1:p.Asn8468Lys
XM_006715413.2:c.25350C>G	XP_006715476.1:p.Asn8450Lys
XM_006715415.2:c.25350C>G	XP_006715478.1:p.Asn8450Lys
XM_006715416.2:c.25335C>G	XP_006715479.1:p.Asn8445Lys
XM_006715417.2:c.25278C>G	XP_006715480.1:p.Asn8426Lys
XM_006715420.2:c.25266C>G	XP_006715483.1:p.Asn8422Lys
XM_006715421.2:c.25263C>G	XP_006715484.1:p.Asn8421Lys
XM_006715423.2:c.25419C>G	XP_006715486.1:p.Asn8473Lys
XM_006715424.2:c.25419C>G	XP_006715487.1:p.Asn8473Lys
XM_006715425.2:c.25350C>G	XP_006715488.1:p.Asn8450Lys
XM_011535641.2:c.25416C>G	XP_011533943.1:p.Asn8472Lys
XM_011535642.2:c.25404C>G	XP_011533944.1:p.Asn8468Lys
XM_011535645.2:c.23187C>G	XP_011533947.1:p.Asn7729Lys
XM_017010608.1:c.25419C>G	XP_016866097.1:p.Asn8473Lys
XM_017010609.1:c.25419C>G	XP_016866098.1:p.Asn8473Lys
XM_017010610.1:c.25398C>G	XP_016866099.1:p.Asn8466Lys
XM_017010611.2:c.25392C>G	XP_016866100.1:p.Asn8464Lys
XM_017010612.1:c.25341C>G	XP_016866101.1:p.Asn8447Lys
XM_017010613.1:c.25347C>G	XP_016866102.1:p.Asn8449Lys
XM_017010614.1:c.25263C>G	XP_016866103.1:p.Asn8421Lys
XM_017010615.1:c.25194C>G	XP_016866104.1:p.Asn8398Lys
XM_017010616.1:c.25350C>G	XP_016866105.1:p.Asn8450Lys
XM_017010617.1:c.25347C>G	XP_016866106.1:p.Asn8449Lys
XM_017010618.1:c.25335C>G	XP_016866107.1:p.Asn8445Lys
XM_017010619.1:c.23694C>G	XP_016866108.1:p.Asn7898Lys
NM_182961.4:c.25314C>G MANE Select	NP_892006.3:p.Asn8438Lys
NM_001347701.2:c.1920C>G	NP_001334630.1:p.Asn640Lys
NM_001347702.2:c.1848C>G MANE Plus Clinical	NP_001334631.1:p.Asn616Lys
NM_033071.5:c.25170C>G	NP_149062.2:p.Asn8390Lys