Canonical Allele Identifier: CA366079918

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461087T>C (hg19) ; chr6:g.152139952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139952T>C , CM000668.2:g.152139952T>C	GRCh38
NC_000006.11:g.152461087T>C , CM000668.1:g.152461087T>C	GRCh37
NC_000006.10:g.152502780T>C	NCBI36
NG_012855.1:g.502448A>G
NG_012855.2:g.502448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1990A>G MANE Plus Clinical	ENSP00000346701.4:p.Lys664Glu
ENST00000367255.10:c.25456A>G MANE Select	ENSP00000356224.5:p.Lys8486Glu
ENST00000423061.6:c.25312A>G	ENSP00000396024.1:p.Lys8438Glu
ENST00000672154.1:c.858A>G
ENST00000672169.1:c.1191A>G
ENST00000673173.1:c.1100A>G
ENST00000673451.1:c.1228A>G	ENSP00000500189.1:p.Lys410Glu
ENST00000341594.9:c.24241A>G	ENSP00000341887.6:p.Lys8081Glu
ENST00000347037.9:n.2204A>G
ENST00000354674.4:c.1990A>G	ENSP00000346701.4:p.Lys664Glu
ENST00000367251.7:c.4291A>G	ENSP00000356220.3:p.Lys1431Glu
ENST00000367255.9:c.25456A>G	ENSP00000356224.5:p.Lys8486Glu
ENST00000367256.9:n.9148A>G
ENST00000367257.8:c.3394A>G	ENSP00000356226.4:p.Lys1132Glu
ENST00000409694.6:n.9040A>G
ENST00000423061.5:c.25312A>G	ENSP00000396024.1:p.Lys8438Glu
ENST00000460912.6:n.2070A>G
ENST00000478916.5:n.4478A>G
ENST00000536990.5:n.2293A>G
ENST00000539504.5:c.1921A>G	ENSP00000441052.1:p.Lys641Glu
NM_033071.3:c.25312A>G	NP_149062.1:p.Lys8438Glu
NM_182961.3:c.25456A>G	NP_892006.3:p.Lys8486Glu
XM_006715407.1:c.25561A>G	XP_006715470.1:p.Lys8521Glu
XM_006715408.1:c.25549A>G	XP_006715471.1:p.Lys8517Glu
XM_006715409.1:c.25540A>G	XP_006715472.1:p.Lys8514Glu
XM_006715410.1:c.25561A>G	XP_006715473.1:p.Lys8521Glu
XM_006715411.1:c.25510A>G	XP_006715474.1:p.Lys8504Glu
XM_006715412.1:c.25546A>G	XP_006715475.1:p.Lys8516Glu
XM_006715413.1:c.25492A>G	XP_006715476.1:p.Lys8498Glu
XM_006715414.1:c.25489A>G	XP_006715477.1:p.Lys8497Glu
XM_006715415.1:c.25492A>G	XP_006715478.1:p.Lys8498Glu
XM_006715416.1:c.25477A>G	XP_006715479.1:p.Lys8493Glu
XM_006715417.1:c.25420A>G	XP_006715480.1:p.Lys8474Glu
XM_006715420.1:c.25408A>G	XP_006715483.1:p.Lys8470Glu
XM_006715421.1:c.25405A>G	XP_006715484.1:p.Lys8469Glu
XM_006715422.1:c.25402A>G	XP_006715485.1:p.Lys8468Glu
XM_006715423.1:c.25561A>G	XP_006715486.1:p.Lys8521Glu
XM_006715424.1:c.25561A>G	XP_006715487.1:p.Lys8521Glu
XM_006715425.1:c.25492A>G	XP_006715488.1:p.Lys8498Glu
XM_011535641.1:c.25558A>G	XP_011533943.1:p.Lys8520Glu
XM_011535642.1:c.25546A>G	XP_011533944.1:p.Lys8516Glu
XM_011535643.1:c.25396A>G	XP_011533945.1:p.Lys8466Glu
XM_011535644.1:c.23836A>G	XP_011533946.1:p.Lys7946Glu
XM_011535645.1:c.23329A>G	XP_011533947.1:p.Lys7777Glu
XM_011535647.1:c.18796A>G	XP_011533949.1:p.Lys6266Glu
NM_001347701.1:c.2062A>G	NP_001334630.1:p.Lys688Glu
NM_001347702.1:c.1990A>G	NP_001334631.1:p.Lys664Glu
XM_006715408.2:c.25549A>G	XP_006715471.1:p.Lys8517Glu
XM_006715410.2:c.25561A>G	XP_006715473.1:p.Lys8521Glu
XM_006715412.2:c.25546A>G	XP_006715475.1:p.Lys8516Glu
XM_006715413.2:c.25492A>G	XP_006715476.1:p.Lys8498Glu
XM_006715415.2:c.25492A>G	XP_006715478.1:p.Lys8498Glu
XM_006715416.2:c.25477A>G	XP_006715479.1:p.Lys8493Glu
XM_006715417.2:c.25420A>G	XP_006715480.1:p.Lys8474Glu
XM_006715420.2:c.25408A>G	XP_006715483.1:p.Lys8470Glu
XM_006715421.2:c.25405A>G	XP_006715484.1:p.Lys8469Glu
XM_006715423.2:c.25561A>G	XP_006715486.1:p.Lys8521Glu
XM_006715424.2:c.25561A>G	XP_006715487.1:p.Lys8521Glu
XM_006715425.2:c.25492A>G	XP_006715488.1:p.Lys8498Glu
XM_011535641.2:c.25558A>G	XP_011533943.1:p.Lys8520Glu
XM_011535642.2:c.25546A>G	XP_011533944.1:p.Lys8516Glu
XM_011535645.2:c.23329A>G	XP_011533947.1:p.Lys7777Glu
XM_017010608.1:c.25561A>G	XP_016866097.1:p.Lys8521Glu
XM_017010609.1:c.25561A>G	XP_016866098.1:p.Lys8521Glu
XM_017010610.1:c.25540A>G	XP_016866099.1:p.Lys8514Glu
XM_017010611.2:c.25534A>G	XP_016866100.1:p.Lys8512Glu
XM_017010612.1:c.25483A>G	XP_016866101.1:p.Lys8495Glu
XM_017010613.1:c.25489A>G	XP_016866102.1:p.Lys8497Glu
XM_017010614.1:c.25405A>G	XP_016866103.1:p.Lys8469Glu
XM_017010615.1:c.25336A>G	XP_016866104.1:p.Lys8446Glu
XM_017010616.1:c.25492A>G	XP_016866105.1:p.Lys8498Glu
XM_017010617.1:c.25489A>G	XP_016866106.1:p.Lys8497Glu
XM_017010618.1:c.25477A>G	XP_016866107.1:p.Lys8493Glu
XM_017010619.1:c.23836A>G	XP_016866108.1:p.Lys7946Glu
NM_182961.4:c.25456A>G MANE Select	NP_892006.3:p.Lys8486Glu
NM_001347701.2:c.2062A>G	NP_001334630.1:p.Lys688Glu
NM_001347702.2:c.1990A>G MANE Plus Clinical	NP_001334631.1:p.Lys664Glu
NM_033071.5:c.25312A>G	NP_149062.2:p.Lys8438Glu