Canonical Allele Identifier: CA452969827

Gene: SYNE1

Linked Data

• dbSNP Id: rs1397928667
• gnomAD v4: 6-152140001-C-T
• MyVariant Identifiers: chr6:g.152461136C>T (hg19) ; chr6:g.152140001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140001C>T , CM000668.2:g.152140001C>T	GRCh38
NC_000006.11:g.152461136C>T , CM000668.1:g.152461136C>T	GRCh37
NC_000006.10:g.152502829C>T	NCBI36
NG_012855.1:g.502399G>A
NG_012855.2:g.502399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1941G>A MANE Plus Clinical	ENSP00000346701.4:p.Leu647=
ENST00000367255.10:c.25407G>A MANE Select	ENSP00000356224.5:p.Leu8469=
ENST00000423061.6:c.25263G>A	ENSP00000396024.1:p.Leu8421=
ENST00000672154.1:c.809G>A
ENST00000672169.1:c.1142G>A
ENST00000673173.1:c.1051G>A
ENST00000673451.1:c.1179G>A	ENSP00000500189.1:p.Leu393=
ENST00000341594.9:c.24192G>A	ENSP00000341887.6:p.Leu8064=
ENST00000347037.9:n.2155G>A
ENST00000354674.4:c.1941G>A	ENSP00000346701.4:p.Leu647=
ENST00000367251.7:c.4242G>A	ENSP00000356220.3:p.Leu1414=
ENST00000367255.9:c.25407G>A	ENSP00000356224.5:p.Leu8469=
ENST00000367256.9:n.9099G>A
ENST00000367257.8:c.3345G>A	ENSP00000356226.4:p.Leu1115=
ENST00000409694.6:n.8991G>A
ENST00000423061.5:c.25263G>A	ENSP00000396024.1:p.Leu8421=
ENST00000460912.6:n.2021G>A
ENST00000478916.5:n.4429G>A
ENST00000536990.5:n.2244G>A
ENST00000539504.5:c.1872G>A	ENSP00000441052.1:p.Leu624=
NM_033071.3:c.25263G>A	NP_149062.1:p.Leu8421=
NM_182961.3:c.25407G>A	NP_892006.3:p.Leu8469=
XM_006715407.1:c.25512G>A	XP_006715470.1:p.Leu8504=
XM_006715408.1:c.25500G>A	XP_006715471.1:p.Leu8500=
XM_006715409.1:c.25491G>A	XP_006715472.1:p.Leu8497=
XM_006715410.1:c.25512G>A	XP_006715473.1:p.Leu8504=
XM_006715411.1:c.25461G>A	XP_006715474.1:p.Leu8487=
XM_006715412.1:c.25497G>A	XP_006715475.1:p.Leu8499=
XM_006715413.1:c.25443G>A	XP_006715476.1:p.Leu8481=
XM_006715414.1:c.25440G>A	XP_006715477.1:p.Leu8480=
XM_006715415.1:c.25443G>A	XP_006715478.1:p.Leu8481=
XM_006715416.1:c.25428G>A	XP_006715479.1:p.Leu8476=
XM_006715417.1:c.25371G>A	XP_006715480.1:p.Leu8457=
XM_006715420.1:c.25359G>A	XP_006715483.1:p.Leu8453=
XM_006715421.1:c.25356G>A	XP_006715484.1:p.Leu8452=
XM_006715422.1:c.25353G>A	XP_006715485.1:p.Leu8451=
XM_006715423.1:c.25512G>A	XP_006715486.1:p.Leu8504=
XM_006715424.1:c.25512G>A	XP_006715487.1:p.Leu8504=
XM_006715425.1:c.25443G>A	XP_006715488.1:p.Leu8481=
XM_011535641.1:c.25509G>A	XP_011533943.1:p.Leu8503=
XM_011535642.1:c.25497G>A	XP_011533944.1:p.Leu8499=
XM_011535643.1:c.25347G>A	XP_011533945.1:p.Leu8449=
XM_011535644.1:c.23787G>A	XP_011533946.1:p.Leu7929=
XM_011535645.1:c.23280G>A	XP_011533947.1:p.Leu7760=
XM_011535647.1:c.18747G>A	XP_011533949.1:p.Leu6249=
NM_001347701.1:c.2013G>A	NP_001334630.1:p.Leu671=
NM_001347702.1:c.1941G>A	NP_001334631.1:p.Leu647=
XM_006715408.2:c.25500G>A	XP_006715471.1:p.Leu8500=
XM_006715410.2:c.25512G>A	XP_006715473.1:p.Leu8504=
XM_006715412.2:c.25497G>A	XP_006715475.1:p.Leu8499=
XM_006715413.2:c.25443G>A	XP_006715476.1:p.Leu8481=
XM_006715415.2:c.25443G>A	XP_006715478.1:p.Leu8481=
XM_006715416.2:c.25428G>A	XP_006715479.1:p.Leu8476=
XM_006715417.2:c.25371G>A	XP_006715480.1:p.Leu8457=
XM_006715420.2:c.25359G>A	XP_006715483.1:p.Leu8453=
XM_006715421.2:c.25356G>A	XP_006715484.1:p.Leu8452=
XM_006715423.2:c.25512G>A	XP_006715486.1:p.Leu8504=
XM_006715424.2:c.25512G>A	XP_006715487.1:p.Leu8504=
XM_006715425.2:c.25443G>A	XP_006715488.1:p.Leu8481=
XM_011535641.2:c.25509G>A	XP_011533943.1:p.Leu8503=
XM_011535642.2:c.25497G>A	XP_011533944.1:p.Leu8499=
XM_011535645.2:c.23280G>A	XP_011533947.1:p.Leu7760=
XM_017010608.1:c.25512G>A	XP_016866097.1:p.Leu8504=
XM_017010609.1:c.25512G>A	XP_016866098.1:p.Leu8504=
XM_017010610.1:c.25491G>A	XP_016866099.1:p.Leu8497=
XM_017010611.2:c.25485G>A	XP_016866100.1:p.Leu8495=
XM_017010612.1:c.25434G>A	XP_016866101.1:p.Leu8478=
XM_017010613.1:c.25440G>A	XP_016866102.1:p.Leu8480=
XM_017010614.1:c.25356G>A	XP_016866103.1:p.Leu8452=
XM_017010615.1:c.25287G>A	XP_016866104.1:p.Leu8429=
XM_017010616.1:c.25443G>A	XP_016866105.1:p.Leu8481=
XM_017010617.1:c.25440G>A	XP_016866106.1:p.Leu8480=
XM_017010618.1:c.25428G>A	XP_016866107.1:p.Leu8476=
XM_017010619.1:c.23787G>A	XP_016866108.1:p.Leu7929=
NM_182961.4:c.25407G>A MANE Select	NP_892006.3:p.Leu8469=
NM_001347701.2:c.2013G>A	NP_001334630.1:p.Leu671=
NM_001347702.2:c.1941G>A MANE Plus Clinical	NP_001334631.1:p.Leu647=
NM_033071.5:c.25263G>A	NP_149062.2:p.Leu8421=