Canonical Allele Identifier: CA366080258

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461171C>G (hg19) ; chr6:g.152140036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140036C>G , CM000668.2:g.152140036C>G	GRCh38
NC_000006.11:g.152461171C>G , CM000668.1:g.152461171C>G	GRCh37
NC_000006.10:g.152502864C>G	NCBI36
NG_012855.1:g.502364G>C
NG_012855.2:g.502364G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1906G>C MANE Plus Clinical	ENSP00000346701.4:p.Asp636His
ENST00000367255.10:c.25372G>C MANE Select	ENSP00000356224.5:p.Asp8458His
ENST00000423061.6:c.25228G>C	ENSP00000396024.1:p.Asp8410His
ENST00000672154.1:c.774G>C
ENST00000672169.1:c.1107G>C
ENST00000673173.1:c.1016G>C
ENST00000673451.1:c.1144G>C	ENSP00000500189.1:p.Asp382His
ENST00000341594.9:c.24157G>C	ENSP00000341887.6:p.Asp8053His
ENST00000347037.9:n.2120G>C
ENST00000354674.4:c.1906G>C	ENSP00000346701.4:p.Asp636His
ENST00000367251.7:c.4207G>C	ENSP00000356220.3:p.Asp1403His
ENST00000367255.9:c.25372G>C	ENSP00000356224.5:p.Asp8458His
ENST00000367256.9:n.9064G>C
ENST00000367257.8:c.3310G>C	ENSP00000356226.4:p.Asp1104His
ENST00000409694.6:n.8956G>C
ENST00000423061.5:c.25228G>C	ENSP00000396024.1:p.Asp8410His
ENST00000460912.6:n.1986G>C
ENST00000478916.5:n.4394G>C
ENST00000536990.5:n.2209G>C
ENST00000539504.5:c.1837G>C	ENSP00000441052.1:p.Asp613His
NM_033071.3:c.25228G>C	NP_149062.1:p.Asp8410His
NM_182961.3:c.25372G>C	NP_892006.3:p.Asp8458His
XM_006715407.1:c.25477G>C	XP_006715470.1:p.Asp8493His
XM_006715408.1:c.25465G>C	XP_006715471.1:p.Asp8489His
XM_006715409.1:c.25456G>C	XP_006715472.1:p.Asp8486His
XM_006715410.1:c.25477G>C	XP_006715473.1:p.Asp8493His
XM_006715411.1:c.25426G>C	XP_006715474.1:p.Asp8476His
XM_006715412.1:c.25462G>C	XP_006715475.1:p.Asp8488His
XM_006715413.1:c.25408G>C	XP_006715476.1:p.Asp8470His
XM_006715414.1:c.25405G>C	XP_006715477.1:p.Asp8469His
XM_006715415.1:c.25408G>C	XP_006715478.1:p.Asp8470His
XM_006715416.1:c.25393G>C	XP_006715479.1:p.Asp8465His
XM_006715417.1:c.25336G>C	XP_006715480.1:p.Asp8446His
XM_006715420.1:c.25324G>C	XP_006715483.1:p.Asp8442His
XM_006715421.1:c.25321G>C	XP_006715484.1:p.Asp8441His
XM_006715422.1:c.25318G>C	XP_006715485.1:p.Asp8440His
XM_006715423.1:c.25477G>C	XP_006715486.1:p.Asp8493His
XM_006715424.1:c.25477G>C	XP_006715487.1:p.Asp8493His
XM_006715425.1:c.25408G>C	XP_006715488.1:p.Asp8470His
XM_011535641.1:c.25474G>C	XP_011533943.1:p.Asp8492His
XM_011535642.1:c.25462G>C	XP_011533944.1:p.Asp8488His
XM_011535643.1:c.25312G>C	XP_011533945.1:p.Asp8438His
XM_011535644.1:c.23752G>C	XP_011533946.1:p.Asp7918His
XM_011535645.1:c.23245G>C	XP_011533947.1:p.Asp7749His
XM_011535647.1:c.18712G>C	XP_011533949.1:p.Asp6238His
NM_001347701.1:c.1978G>C	NP_001334630.1:p.Asp660His
NM_001347702.1:c.1906G>C	NP_001334631.1:p.Asp636His
XM_006715408.2:c.25465G>C	XP_006715471.1:p.Asp8489His
XM_006715410.2:c.25477G>C	XP_006715473.1:p.Asp8493His
XM_006715412.2:c.25462G>C	XP_006715475.1:p.Asp8488His
XM_006715413.2:c.25408G>C	XP_006715476.1:p.Asp8470His
XM_006715415.2:c.25408G>C	XP_006715478.1:p.Asp8470His
XM_006715416.2:c.25393G>C	XP_006715479.1:p.Asp8465His
XM_006715417.2:c.25336G>C	XP_006715480.1:p.Asp8446His
XM_006715420.2:c.25324G>C	XP_006715483.1:p.Asp8442His
XM_006715421.2:c.25321G>C	XP_006715484.1:p.Asp8441His
XM_006715423.2:c.25477G>C	XP_006715486.1:p.Asp8493His
XM_006715424.2:c.25477G>C	XP_006715487.1:p.Asp8493His
XM_006715425.2:c.25408G>C	XP_006715488.1:p.Asp8470His
XM_011535641.2:c.25474G>C	XP_011533943.1:p.Asp8492His
XM_011535642.2:c.25462G>C	XP_011533944.1:p.Asp8488His
XM_011535645.2:c.23245G>C	XP_011533947.1:p.Asp7749His
XM_017010608.1:c.25477G>C	XP_016866097.1:p.Asp8493His
XM_017010609.1:c.25477G>C	XP_016866098.1:p.Asp8493His
XM_017010610.1:c.25456G>C	XP_016866099.1:p.Asp8486His
XM_017010611.2:c.25450G>C	XP_016866100.1:p.Asp8484His
XM_017010612.1:c.25399G>C	XP_016866101.1:p.Asp8467His
XM_017010613.1:c.25405G>C	XP_016866102.1:p.Asp8469His
XM_017010614.1:c.25321G>C	XP_016866103.1:p.Asp8441His
XM_017010615.1:c.25252G>C	XP_016866104.1:p.Asp8418His
XM_017010616.1:c.25408G>C	XP_016866105.1:p.Asp8470His
XM_017010617.1:c.25405G>C	XP_016866106.1:p.Asp8469His
XM_017010618.1:c.25393G>C	XP_016866107.1:p.Asp8465His
XM_017010619.1:c.23752G>C	XP_016866108.1:p.Asp7918His
NM_182961.4:c.25372G>C MANE Select	NP_892006.3:p.Asp8458His
NM_001347701.2:c.1978G>C	NP_001334630.1:p.Asp660His
NM_001347702.2:c.1906G>C MANE Plus Clinical	NP_001334631.1:p.Asp636His
NM_033071.5:c.25228G>C	NP_149062.2:p.Asp8410His