Canonical Allele Identifier: CA366086878

Gene: SYNE1

Linked Data

• dbSNP Id: rs200118773
• gnomAD v2: 6-152473123-G-T
• gnomAD v4: 6-152151988-G-T
• MyVariant Identifiers: chr6:g.152473123G>T (hg19) ; chr6:g.152151988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152151988G>T , CM000668.2:g.152151988G>T	GRCh38
NC_000006.11:g.152473123G>T , CM000668.1:g.152473123G>T	GRCh37
NC_000006.10:g.152514816G>T	NCBI36
NG_012855.1:g.490412C>A
NG_012855.2:g.490412C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.748C>A MANE Plus Clinical	ENSP00000346701.4:p.Arg250Ser
ENST00000367255.10:c.24283C>A MANE Select	ENSP00000356224.5:p.Arg8095Ser
ENST00000423061.6:c.24070C>A	ENSP00000396024.1:p.Arg8024Ser
ENST00000672169.1:c.18C>A
ENST00000673173.1:c.197C>A
ENST00000673451.1:c.55C>A	ENSP00000500189.1:p.Arg19Ser
ENST00000341594.9:c.23068C>A	ENSP00000341887.6:p.Arg7690Ser
ENST00000347037.9:n.962C>A
ENST00000354674.4:c.748C>A	ENSP00000346701.4:p.Arg250Ser
ENST00000367251.7:c.3049C>A	ENSP00000356220.3:p.Arg1017Ser
ENST00000367255.9:c.24283C>A	ENSP00000356224.5:p.Arg8095Ser
ENST00000367256.9:n.7975C>A
ENST00000367257.8:c.2221C>A	ENSP00000356226.4:p.Arg741Ser
ENST00000409694.6:n.7867C>A
ENST00000423061.5:c.24070C>A	ENSP00000396024.1:p.Arg8024Ser
ENST00000460912.6:n.828C>A
ENST00000476519.1:n.345C>A
ENST00000536990.5:n.1120C>A
ENST00000539504.5:c.748C>A	ENSP00000441052.1:p.Arg250Ser
NM_033071.3:c.24070C>A	NP_149062.1:p.Arg8024Ser
NM_182961.3:c.24283C>A	NP_892006.3:p.Arg8095Ser
XM_006715407.1:c.24319C>A	XP_006715470.1:p.Arg8107Ser
XM_006715408.1:c.24307C>A	XP_006715471.1:p.Arg8103Ser
XM_006715409.1:c.24298C>A	XP_006715472.1:p.Arg8100Ser
XM_006715410.1:c.24319C>A	XP_006715473.1:p.Arg8107Ser
XM_006715411.1:c.24268C>A	XP_006715474.1:p.Arg8090Ser
XM_006715412.1:c.24304C>A	XP_006715475.1:p.Arg8102Ser
XM_006715413.1:c.24319C>A	XP_006715476.1:p.Arg8107Ser
XM_006715414.1:c.24247C>A	XP_006715477.1:p.Arg8083Ser
XM_006715415.1:c.24319C>A	XP_006715478.1:p.Arg8107Ser
XM_006715416.1:c.24304C>A	XP_006715479.1:p.Arg8102Ser
XM_006715417.1:c.24178C>A	XP_006715480.1:p.Arg8060Ser
XM_006715420.1:c.24166C>A	XP_006715483.1:p.Arg8056Ser
XM_006715421.1:c.24163C>A	XP_006715484.1:p.Arg8055Ser
XM_006715422.1:c.24160C>A	XP_006715485.1:p.Arg8054Ser
XM_006715423.1:c.24319C>A	XP_006715486.1:p.Arg8107Ser
XM_006715424.1:c.24319C>A	XP_006715487.1:p.Arg8107Ser
XM_006715425.1:c.24319C>A	XP_006715488.1:p.Arg8107Ser
XM_011535641.1:c.24316C>A	XP_011533943.1:p.Arg8106Ser
XM_011535642.1:c.24304C>A	XP_011533944.1:p.Arg8102Ser
XM_011535643.1:c.24154C>A	XP_011533945.1:p.Arg8052Ser
XM_011535644.1:c.22594C>A	XP_011533946.1:p.Arg7532Ser
XM_011535645.1:c.22087C>A	XP_011533947.1:p.Arg7363Ser
XM_011535647.1:c.17554C>A	XP_011533949.1:p.Arg5852Ser
NM_001347701.1:c.889C>A	NP_001334630.1:p.Arg297Ser
NM_001347702.1:c.748C>A	NP_001334631.1:p.Arg250Ser
XM_006715408.2:c.24307C>A	XP_006715471.1:p.Arg8103Ser
XM_006715410.2:c.24319C>A	XP_006715473.1:p.Arg8107Ser
XM_006715412.2:c.24304C>A	XP_006715475.1:p.Arg8102Ser
XM_006715413.2:c.24319C>A	XP_006715476.1:p.Arg8107Ser
XM_006715415.2:c.24319C>A	XP_006715478.1:p.Arg8107Ser
XM_006715416.2:c.24304C>A	XP_006715479.1:p.Arg8102Ser
XM_006715417.2:c.24178C>A	XP_006715480.1:p.Arg8060Ser
XM_006715420.2:c.24166C>A	XP_006715483.1:p.Arg8056Ser
XM_006715421.2:c.24163C>A	XP_006715484.1:p.Arg8055Ser
XM_006715423.2:c.24319C>A	XP_006715486.1:p.Arg8107Ser
XM_006715424.2:c.24319C>A	XP_006715487.1:p.Arg8107Ser
XM_006715425.2:c.24319C>A	XP_006715488.1:p.Arg8107Ser
XM_011535641.2:c.24316C>A	XP_011533943.1:p.Arg8106Ser
XM_011535642.2:c.24304C>A	XP_011533944.1:p.Arg8102Ser
XM_011535645.2:c.22087C>A	XP_011533947.1:p.Arg7363Ser
XM_017010608.1:c.24319C>A	XP_016866097.1:p.Arg8107Ser
XM_017010609.1:c.24319C>A	XP_016866098.1:p.Arg8107Ser
XM_017010610.1:c.24298C>A	XP_016866099.1:p.Arg8100Ser
XM_017010611.2:c.24292C>A	XP_016866100.1:p.Arg8098Ser
XM_017010612.1:c.24241C>A	XP_016866101.1:p.Arg8081Ser
XM_017010613.1:c.24316C>A	XP_016866102.1:p.Arg8106Ser
XM_017010614.1:c.24163C>A	XP_016866103.1:p.Arg8055Ser
XM_017010615.1:c.24163C>A	XP_016866104.1:p.Arg8055Ser
XM_017010616.1:c.24319C>A	XP_016866105.1:p.Arg8107Ser
XM_017010617.1:c.24316C>A	XP_016866106.1:p.Arg8106Ser
XM_017010618.1:c.24304C>A	XP_016866107.1:p.Arg8102Ser
XM_017010619.1:c.22594C>A	XP_016866108.1:p.Arg7532Ser
NM_182961.4:c.24283C>A MANE Select	NP_892006.3:p.Arg8095Ser
NM_001347701.2:c.889C>A	NP_001334630.1:p.Arg297Ser
NM_001347702.2:c.748C>A MANE Plus Clinical	NP_001334631.1:p.Arg250Ser
NM_033071.5:c.24070C>A	NP_149062.2:p.Arg8024Ser