Canonical Allele Identifier: CA366086875

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152151987-C-A
• MyVariant Identifiers: chr6:g.152473122C>A (hg19) ; chr6:g.152151987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152151987C>A , CM000668.2:g.152151987C>A	GRCh38
NC_000006.11:g.152473122C>A , CM000668.1:g.152473122C>A	GRCh37
NC_000006.10:g.152514815C>A	NCBI36
NG_012855.1:g.490413G>T
NG_012855.2:g.490413G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.749G>T MANE Plus Clinical	ENSP00000346701.4:p.Arg250Leu
ENST00000367255.10:c.24284G>T MANE Select	ENSP00000356224.5:p.Arg8095Leu
ENST00000423061.6:c.24071G>T	ENSP00000396024.1:p.Arg8024Leu
ENST00000672169.1:c.19G>T
ENST00000673173.1:c.198G>T
ENST00000673451.1:c.56G>T	ENSP00000500189.1:p.Arg19Leu
ENST00000341594.9:c.23069G>T	ENSP00000341887.6:p.Arg7690Leu
ENST00000347037.9:n.963G>T
ENST00000354674.4:c.749G>T	ENSP00000346701.4:p.Arg250Leu
ENST00000367251.7:c.3050G>T	ENSP00000356220.3:p.Arg1017Leu
ENST00000367255.9:c.24284G>T	ENSP00000356224.5:p.Arg8095Leu
ENST00000367256.9:n.7976G>T
ENST00000367257.8:c.2222G>T	ENSP00000356226.4:p.Arg741Leu
ENST00000409694.6:n.7868G>T
ENST00000423061.5:c.24071G>T	ENSP00000396024.1:p.Arg8024Leu
ENST00000460912.6:n.829G>T
ENST00000476519.1:n.346G>T
ENST00000536990.5:n.1121G>T
ENST00000539504.5:c.749G>T	ENSP00000441052.1:p.Arg250Leu
NM_033071.3:c.24071G>T	NP_149062.1:p.Arg8024Leu
NM_182961.3:c.24284G>T	NP_892006.3:p.Arg8095Leu
XM_006715407.1:c.24320G>T	XP_006715470.1:p.Arg8107Leu
XM_006715408.1:c.24308G>T	XP_006715471.1:p.Arg8103Leu
XM_006715409.1:c.24299G>T	XP_006715472.1:p.Arg8100Leu
XM_006715410.1:c.24320G>T	XP_006715473.1:p.Arg8107Leu
XM_006715411.1:c.24269G>T	XP_006715474.1:p.Arg8090Leu
XM_006715412.1:c.24305G>T	XP_006715475.1:p.Arg8102Leu
XM_006715413.1:c.24320G>T	XP_006715476.1:p.Arg8107Leu
XM_006715414.1:c.24248G>T	XP_006715477.1:p.Arg8083Leu
XM_006715415.1:c.24320G>T	XP_006715478.1:p.Arg8107Leu
XM_006715416.1:c.24305G>T	XP_006715479.1:p.Arg8102Leu
XM_006715417.1:c.24179G>T	XP_006715480.1:p.Arg8060Leu
XM_006715420.1:c.24167G>T	XP_006715483.1:p.Arg8056Leu
XM_006715421.1:c.24164G>T	XP_006715484.1:p.Arg8055Leu
XM_006715422.1:c.24161G>T	XP_006715485.1:p.Arg8054Leu
XM_006715423.1:c.24320G>T	XP_006715486.1:p.Arg8107Leu
XM_006715424.1:c.24320G>T	XP_006715487.1:p.Arg8107Leu
XM_006715425.1:c.24320G>T	XP_006715488.1:p.Arg8107Leu
XM_011535641.1:c.24317G>T	XP_011533943.1:p.Arg8106Leu
XM_011535642.1:c.24305G>T	XP_011533944.1:p.Arg8102Leu
XM_011535643.1:c.24155G>T	XP_011533945.1:p.Arg8052Leu
XM_011535644.1:c.22595G>T	XP_011533946.1:p.Arg7532Leu
XM_011535645.1:c.22088G>T	XP_011533947.1:p.Arg7363Leu
XM_011535647.1:c.17555G>T	XP_011533949.1:p.Arg5852Leu
NM_001347701.1:c.890G>T	NP_001334630.1:p.Arg297Leu
NM_001347702.1:c.749G>T	NP_001334631.1:p.Arg250Leu
XM_006715408.2:c.24308G>T	XP_006715471.1:p.Arg8103Leu
XM_006715410.2:c.24320G>T	XP_006715473.1:p.Arg8107Leu
XM_006715412.2:c.24305G>T	XP_006715475.1:p.Arg8102Leu
XM_006715413.2:c.24320G>T	XP_006715476.1:p.Arg8107Leu
XM_006715415.2:c.24320G>T	XP_006715478.1:p.Arg8107Leu
XM_006715416.2:c.24305G>T	XP_006715479.1:p.Arg8102Leu
XM_006715417.2:c.24179G>T	XP_006715480.1:p.Arg8060Leu
XM_006715420.2:c.24167G>T	XP_006715483.1:p.Arg8056Leu
XM_006715421.2:c.24164G>T	XP_006715484.1:p.Arg8055Leu
XM_006715423.2:c.24320G>T	XP_006715486.1:p.Arg8107Leu
XM_006715424.2:c.24320G>T	XP_006715487.1:p.Arg8107Leu
XM_006715425.2:c.24320G>T	XP_006715488.1:p.Arg8107Leu
XM_011535641.2:c.24317G>T	XP_011533943.1:p.Arg8106Leu
XM_011535642.2:c.24305G>T	XP_011533944.1:p.Arg8102Leu
XM_011535645.2:c.22088G>T	XP_011533947.1:p.Arg7363Leu
XM_017010608.1:c.24320G>T	XP_016866097.1:p.Arg8107Leu
XM_017010609.1:c.24320G>T	XP_016866098.1:p.Arg8107Leu
XM_017010610.1:c.24299G>T	XP_016866099.1:p.Arg8100Leu
XM_017010611.2:c.24293G>T	XP_016866100.1:p.Arg8098Leu
XM_017010612.1:c.24242G>T	XP_016866101.1:p.Arg8081Leu
XM_017010613.1:c.24317G>T	XP_016866102.1:p.Arg8106Leu
XM_017010614.1:c.24164G>T	XP_016866103.1:p.Arg8055Leu
XM_017010615.1:c.24164G>T	XP_016866104.1:p.Arg8055Leu
XM_017010616.1:c.24320G>T	XP_016866105.1:p.Arg8107Leu
XM_017010617.1:c.24317G>T	XP_016866106.1:p.Arg8106Leu
XM_017010618.1:c.24305G>T	XP_016866107.1:p.Arg8102Leu
XM_017010619.1:c.22595G>T	XP_016866108.1:p.Arg7532Leu
NM_182961.4:c.24284G>T MANE Select	NP_892006.3:p.Arg8095Leu
NM_001347701.2:c.890G>T	NP_001334630.1:p.Arg297Leu
NM_001347702.2:c.749G>T MANE Plus Clinical	NP_001334631.1:p.Arg250Leu
NM_033071.5:c.24071G>T	NP_149062.2:p.Arg8024Leu