Canonical Allele Identifier: CA366080239

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152140032-G-C
• MyVariant Identifiers: chr6:g.152461167G>C (hg19) ; chr6:g.152140032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140032G>C , CM000668.2:g.152140032G>C	GRCh38
NC_000006.11:g.152461167G>C , CM000668.1:g.152461167G>C	GRCh37
NC_000006.10:g.152502860G>C	NCBI36
NG_012855.1:g.502368C>G
NG_012855.2:g.502368C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1910C>G MANE Plus Clinical	ENSP00000346701.4:p.Thr637Arg
ENST00000367255.10:c.25376C>G MANE Select	ENSP00000356224.5:p.Thr8459Arg
ENST00000423061.6:c.25232C>G	ENSP00000396024.1:p.Thr8411Arg
ENST00000672154.1:c.778C>G
ENST00000672169.1:c.1111C>G
ENST00000673173.1:c.1020C>G
ENST00000673451.1:c.1148C>G	ENSP00000500189.1:p.Thr383Arg
ENST00000341594.9:c.24161C>G	ENSP00000341887.6:p.Thr8054Arg
ENST00000347037.9:n.2124C>G
ENST00000354674.4:c.1910C>G	ENSP00000346701.4:p.Thr637Arg
ENST00000367251.7:c.4211C>G	ENSP00000356220.3:p.Thr1404Arg
ENST00000367255.9:c.25376C>G	ENSP00000356224.5:p.Thr8459Arg
ENST00000367256.9:n.9068C>G
ENST00000367257.8:c.3314C>G	ENSP00000356226.4:p.Thr1105Arg
ENST00000409694.6:n.8960C>G
ENST00000423061.5:c.25232C>G	ENSP00000396024.1:p.Thr8411Arg
ENST00000460912.6:n.1990C>G
ENST00000478916.5:n.4398C>G
ENST00000536990.5:n.2213C>G
ENST00000539504.5:c.1841C>G	ENSP00000441052.1:p.Thr614Arg
NM_033071.3:c.25232C>G	NP_149062.1:p.Thr8411Arg
NM_182961.3:c.25376C>G	NP_892006.3:p.Thr8459Arg
XM_006715407.1:c.25481C>G	XP_006715470.1:p.Thr8494Arg
XM_006715408.1:c.25469C>G	XP_006715471.1:p.Thr8490Arg
XM_006715409.1:c.25460C>G	XP_006715472.1:p.Thr8487Arg
XM_006715410.1:c.25481C>G	XP_006715473.1:p.Thr8494Arg
XM_006715411.1:c.25430C>G	XP_006715474.1:p.Thr8477Arg
XM_006715412.1:c.25466C>G	XP_006715475.1:p.Thr8489Arg
XM_006715413.1:c.25412C>G	XP_006715476.1:p.Thr8471Arg
XM_006715414.1:c.25409C>G	XP_006715477.1:p.Thr8470Arg
XM_006715415.1:c.25412C>G	XP_006715478.1:p.Thr8471Arg
XM_006715416.1:c.25397C>G	XP_006715479.1:p.Thr8466Arg
XM_006715417.1:c.25340C>G	XP_006715480.1:p.Thr8447Arg
XM_006715420.1:c.25328C>G	XP_006715483.1:p.Thr8443Arg
XM_006715421.1:c.25325C>G	XP_006715484.1:p.Thr8442Arg
XM_006715422.1:c.25322C>G	XP_006715485.1:p.Thr8441Arg
XM_006715423.1:c.25481C>G	XP_006715486.1:p.Thr8494Arg
XM_006715424.1:c.25481C>G	XP_006715487.1:p.Thr8494Arg
XM_006715425.1:c.25412C>G	XP_006715488.1:p.Thr8471Arg
XM_011535641.1:c.25478C>G	XP_011533943.1:p.Thr8493Arg
XM_011535642.1:c.25466C>G	XP_011533944.1:p.Thr8489Arg
XM_011535643.1:c.25316C>G	XP_011533945.1:p.Thr8439Arg
XM_011535644.1:c.23756C>G	XP_011533946.1:p.Thr7919Arg
XM_011535645.1:c.23249C>G	XP_011533947.1:p.Thr7750Arg
XM_011535647.1:c.18716C>G	XP_011533949.1:p.Thr6239Arg
NM_001347701.1:c.1982C>G	NP_001334630.1:p.Thr661Arg
NM_001347702.1:c.1910C>G	NP_001334631.1:p.Thr637Arg
XM_006715408.2:c.25469C>G	XP_006715471.1:p.Thr8490Arg
XM_006715410.2:c.25481C>G	XP_006715473.1:p.Thr8494Arg
XM_006715412.2:c.25466C>G	XP_006715475.1:p.Thr8489Arg
XM_006715413.2:c.25412C>G	XP_006715476.1:p.Thr8471Arg
XM_006715415.2:c.25412C>G	XP_006715478.1:p.Thr8471Arg
XM_006715416.2:c.25397C>G	XP_006715479.1:p.Thr8466Arg
XM_006715417.2:c.25340C>G	XP_006715480.1:p.Thr8447Arg
XM_006715420.2:c.25328C>G	XP_006715483.1:p.Thr8443Arg
XM_006715421.2:c.25325C>G	XP_006715484.1:p.Thr8442Arg
XM_006715423.2:c.25481C>G	XP_006715486.1:p.Thr8494Arg
XM_006715424.2:c.25481C>G	XP_006715487.1:p.Thr8494Arg
XM_006715425.2:c.25412C>G	XP_006715488.1:p.Thr8471Arg
XM_011535641.2:c.25478C>G	XP_011533943.1:p.Thr8493Arg
XM_011535642.2:c.25466C>G	XP_011533944.1:p.Thr8489Arg
XM_011535645.2:c.23249C>G	XP_011533947.1:p.Thr7750Arg
XM_017010608.1:c.25481C>G	XP_016866097.1:p.Thr8494Arg
XM_017010609.1:c.25481C>G	XP_016866098.1:p.Thr8494Arg
XM_017010610.1:c.25460C>G	XP_016866099.1:p.Thr8487Arg
XM_017010611.2:c.25454C>G	XP_016866100.1:p.Thr8485Arg
XM_017010612.1:c.25403C>G	XP_016866101.1:p.Thr8468Arg
XM_017010613.1:c.25409C>G	XP_016866102.1:p.Thr8470Arg
XM_017010614.1:c.25325C>G	XP_016866103.1:p.Thr8442Arg
XM_017010615.1:c.25256C>G	XP_016866104.1:p.Thr8419Arg
XM_017010616.1:c.25412C>G	XP_016866105.1:p.Thr8471Arg
XM_017010617.1:c.25409C>G	XP_016866106.1:p.Thr8470Arg
XM_017010618.1:c.25397C>G	XP_016866107.1:p.Thr8466Arg
XM_017010619.1:c.23756C>G	XP_016866108.1:p.Thr7919Arg
NM_182961.4:c.25376C>G MANE Select	NP_892006.3:p.Thr8459Arg
NM_001347701.2:c.1982C>G	NP_001334630.1:p.Thr661Arg
NM_001347702.2:c.1910C>G MANE Plus Clinical	NP_001334631.1:p.Thr637Arg
NM_033071.5:c.25232C>G	NP_149062.2:p.Thr8411Arg