Canonical Allele Identifier: CA452747084

Gene: SYNE1

Linked Data

• dbSNP Id: rs1376848479
• gnomAD v2: 6-152462366-G-A
• gnomAD v3: 6-152141231-G-A
• gnomAD v4: 6-152141231-G-A
• MyVariant Identifiers: chr6:g.152462366G>A (hg19) ; chr6:g.152141231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141231G>A , CM000668.2:g.152141231G>A	GRCh38
NC_000006.11:g.152462366G>A , CM000668.1:g.152462366G>A	GRCh37
NC_000006.10:g.152504059G>A	NCBI36
NG_012855.1:g.501169C>T
NG_012855.2:g.501169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1752C>T MANE Plus Clinical	ENSP00000346701.4:p.Asn584=
ENST00000367255.10:c.25218C>T MANE Select	ENSP00000356224.5:p.Asn8406=
ENST00000423061.6:c.25074C>T	ENSP00000396024.1:p.Asn8358=
ENST00000672154.1:c.620C>T
ENST00000672169.1:c.953C>T
ENST00000673173.1:c.891-1070C>T
ENST00000673451.1:c.990C>T	ENSP00000500189.1:p.Asn330=
ENST00000341594.9:c.24003C>T	ENSP00000341887.6:p.Asn8001=
ENST00000347037.9:n.1966C>T
ENST00000354674.4:c.1752C>T	ENSP00000346701.4:p.Asn584=
ENST00000367251.7:c.4053C>T	ENSP00000356220.3:p.Asn1351=
ENST00000367255.9:c.25218C>T	ENSP00000356224.5:p.Asn8406=
ENST00000367256.9:n.8910C>T
ENST00000367257.8:c.3156C>T	ENSP00000356226.4:p.Asn1052=
ENST00000409694.6:n.8802C>T
ENST00000423061.5:c.25074C>T	ENSP00000396024.1:p.Asn8358=
ENST00000460912.6:n.1832C>T
ENST00000478916.5:n.4240C>T
ENST00000536990.5:n.2055C>T
ENST00000539504.5:c.1683C>T	ENSP00000441052.1:p.Asn561=
NM_033071.3:c.25074C>T	NP_149062.1:p.Asn8358=
NM_182961.3:c.25218C>T	NP_892006.3:p.Asn8406=
XM_006715407.1:c.25323C>T	XP_006715470.1:p.Asn8441=
XM_006715408.1:c.25311C>T	XP_006715471.1:p.Asn8437=
XM_006715409.1:c.25302C>T	XP_006715472.1:p.Asn8434=
XM_006715410.1:c.25323C>T	XP_006715473.1:p.Asn8441=
XM_006715411.1:c.25272C>T	XP_006715474.1:p.Asn8424=
XM_006715412.1:c.25308C>T	XP_006715475.1:p.Asn8436=
XM_006715413.1:c.25254C>T	XP_006715476.1:p.Asn8418=
XM_006715414.1:c.25251C>T	XP_006715477.1:p.Asn8417=
XM_006715415.1:c.25254C>T	XP_006715478.1:p.Asn8418=
XM_006715416.1:c.25239C>T	XP_006715479.1:p.Asn8413=
XM_006715417.1:c.25182C>T	XP_006715480.1:p.Asn8394=
XM_006715420.1:c.25170C>T	XP_006715483.1:p.Asn8390=
XM_006715421.1:c.25167C>T	XP_006715484.1:p.Asn8389=
XM_006715422.1:c.25164C>T	XP_006715485.1:p.Asn8388=
XM_006715423.1:c.25323C>T	XP_006715486.1:p.Asn8441=
XM_006715424.1:c.25323C>T	XP_006715487.1:p.Asn8441=
XM_006715425.1:c.25254C>T	XP_006715488.1:p.Asn8418=
XM_011535641.1:c.25320C>T	XP_011533943.1:p.Asn8440=
XM_011535642.1:c.25308C>T	XP_011533944.1:p.Asn8436=
XM_011535643.1:c.25158C>T	XP_011533945.1:p.Asn8386=
XM_011535644.1:c.23598C>T	XP_011533946.1:p.Asn7866=
XM_011535645.1:c.23091C>T	XP_011533947.1:p.Asn7697=
XM_011535647.1:c.18558C>T	XP_011533949.1:p.Asn6186=
NM_001347701.1:c.1824C>T	NP_001334630.1:p.Asn608=
NM_001347702.1:c.1752C>T	NP_001334631.1:p.Asn584=
XM_006715408.2:c.25311C>T	XP_006715471.1:p.Asn8437=
XM_006715410.2:c.25323C>T	XP_006715473.1:p.Asn8441=
XM_006715412.2:c.25308C>T	XP_006715475.1:p.Asn8436=
XM_006715413.2:c.25254C>T	XP_006715476.1:p.Asn8418=
XM_006715415.2:c.25254C>T	XP_006715478.1:p.Asn8418=
XM_006715416.2:c.25239C>T	XP_006715479.1:p.Asn8413=
XM_006715417.2:c.25182C>T	XP_006715480.1:p.Asn8394=
XM_006715420.2:c.25170C>T	XP_006715483.1:p.Asn8390=
XM_006715421.2:c.25167C>T	XP_006715484.1:p.Asn8389=
XM_006715423.2:c.25323C>T	XP_006715486.1:p.Asn8441=
XM_006715424.2:c.25323C>T	XP_006715487.1:p.Asn8441=
XM_006715425.2:c.25254C>T	XP_006715488.1:p.Asn8418=
XM_011535641.2:c.25320C>T	XP_011533943.1:p.Asn8440=
XM_011535642.2:c.25308C>T	XP_011533944.1:p.Asn8436=
XM_011535645.2:c.23091C>T	XP_011533947.1:p.Asn7697=
XM_017010608.1:c.25323C>T	XP_016866097.1:p.Asn8441=
XM_017010609.1:c.25323C>T	XP_016866098.1:p.Asn8441=
XM_017010610.1:c.25302C>T	XP_016866099.1:p.Asn8434=
XM_017010611.2:c.25296C>T	XP_016866100.1:p.Asn8432=
XM_017010612.1:c.25245C>T	XP_016866101.1:p.Asn8415=
XM_017010613.1:c.25251C>T	XP_016866102.1:p.Asn8417=
XM_017010614.1:c.25167C>T	XP_016866103.1:p.Asn8389=
XM_017010615.1:c.25098C>T	XP_016866104.1:p.Asn8366=
XM_017010616.1:c.25254C>T	XP_016866105.1:p.Asn8418=
XM_017010617.1:c.25251C>T	XP_016866106.1:p.Asn8417=
XM_017010618.1:c.25239C>T	XP_016866107.1:p.Asn8413=
XM_017010619.1:c.23598C>T	XP_016866108.1:p.Asn7866=
NM_182961.4:c.25218C>T MANE Select	NP_892006.3:p.Asn8406=
NM_001347701.2:c.1824C>T	NP_001334630.1:p.Asn608=
NM_001347702.2:c.1752C>T MANE Plus Clinical	NP_001334631.1:p.Asn584=
NM_033071.5:c.25074C>T	NP_149062.2:p.Asn8358=