Canonical Allele Identifier: CA366080349

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461186A>G (hg19) ; chr6:g.152140051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140051A>G , CM000668.2:g.152140051A>G	GRCh38
NC_000006.11:g.152461186A>G , CM000668.1:g.152461186A>G	GRCh37
NC_000006.10:g.152502879A>G	NCBI36
NG_012855.1:g.502349T>C
NG_012855.2:g.502349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1891T>C MANE Plus Clinical	ENSP00000346701.4:p.Trp631Arg
ENST00000367255.10:c.25357T>C MANE Select	ENSP00000356224.5:p.Trp8453Arg
ENST00000423061.6:c.25213T>C	ENSP00000396024.1:p.Trp8405Arg
ENST00000672154.1:c.759T>C
ENST00000672169.1:c.1092T>C
ENST00000673173.1:c.1001T>C
ENST00000673451.1:c.1129T>C	ENSP00000500189.1:p.Trp377Arg
ENST00000341594.9:c.24142T>C	ENSP00000341887.6:p.Trp8048Arg
ENST00000347037.9:n.2105T>C
ENST00000354674.4:c.1891T>C	ENSP00000346701.4:p.Trp631Arg
ENST00000367251.7:c.4192T>C	ENSP00000356220.3:p.Trp1398Arg
ENST00000367255.9:c.25357T>C	ENSP00000356224.5:p.Trp8453Arg
ENST00000367256.9:n.9049T>C
ENST00000367257.8:c.3295T>C	ENSP00000356226.4:p.Trp1099Arg
ENST00000409694.6:n.8941T>C
ENST00000423061.5:c.25213T>C	ENSP00000396024.1:p.Trp8405Arg
ENST00000460912.6:n.1971T>C
ENST00000478916.5:n.4379T>C
ENST00000536990.5:n.2194T>C
ENST00000539504.5:c.1822T>C	ENSP00000441052.1:p.Trp608Arg
NM_033071.3:c.25213T>C	NP_149062.1:p.Trp8405Arg
NM_182961.3:c.25357T>C	NP_892006.3:p.Trp8453Arg
XM_006715407.1:c.25462T>C	XP_006715470.1:p.Trp8488Arg
XM_006715408.1:c.25450T>C	XP_006715471.1:p.Trp8484Arg
XM_006715409.1:c.25441T>C	XP_006715472.1:p.Trp8481Arg
XM_006715410.1:c.25462T>C	XP_006715473.1:p.Trp8488Arg
XM_006715411.1:c.25411T>C	XP_006715474.1:p.Trp8471Arg
XM_006715412.1:c.25447T>C	XP_006715475.1:p.Trp8483Arg
XM_006715413.1:c.25393T>C	XP_006715476.1:p.Trp8465Arg
XM_006715414.1:c.25390T>C	XP_006715477.1:p.Trp8464Arg
XM_006715415.1:c.25393T>C	XP_006715478.1:p.Trp8465Arg
XM_006715416.1:c.25378T>C	XP_006715479.1:p.Trp8460Arg
XM_006715417.1:c.25321T>C	XP_006715480.1:p.Trp8441Arg
XM_006715420.1:c.25309T>C	XP_006715483.1:p.Trp8437Arg
XM_006715421.1:c.25306T>C	XP_006715484.1:p.Trp8436Arg
XM_006715422.1:c.25303T>C	XP_006715485.1:p.Trp8435Arg
XM_006715423.1:c.25462T>C	XP_006715486.1:p.Trp8488Arg
XM_006715424.1:c.25462T>C	XP_006715487.1:p.Trp8488Arg
XM_006715425.1:c.25393T>C	XP_006715488.1:p.Trp8465Arg
XM_011535641.1:c.25459T>C	XP_011533943.1:p.Trp8487Arg
XM_011535642.1:c.25447T>C	XP_011533944.1:p.Trp8483Arg
XM_011535643.1:c.25297T>C	XP_011533945.1:p.Trp8433Arg
XM_011535644.1:c.23737T>C	XP_011533946.1:p.Trp7913Arg
XM_011535645.1:c.23230T>C	XP_011533947.1:p.Trp7744Arg
XM_011535647.1:c.18697T>C	XP_011533949.1:p.Trp6233Arg
NM_001347701.1:c.1963T>C	NP_001334630.1:p.Trp655Arg
NM_001347702.1:c.1891T>C	NP_001334631.1:p.Trp631Arg
XM_006715408.2:c.25450T>C	XP_006715471.1:p.Trp8484Arg
XM_006715410.2:c.25462T>C	XP_006715473.1:p.Trp8488Arg
XM_006715412.2:c.25447T>C	XP_006715475.1:p.Trp8483Arg
XM_006715413.2:c.25393T>C	XP_006715476.1:p.Trp8465Arg
XM_006715415.2:c.25393T>C	XP_006715478.1:p.Trp8465Arg
XM_006715416.2:c.25378T>C	XP_006715479.1:p.Trp8460Arg
XM_006715417.2:c.25321T>C	XP_006715480.1:p.Trp8441Arg
XM_006715420.2:c.25309T>C	XP_006715483.1:p.Trp8437Arg
XM_006715421.2:c.25306T>C	XP_006715484.1:p.Trp8436Arg
XM_006715423.2:c.25462T>C	XP_006715486.1:p.Trp8488Arg
XM_006715424.2:c.25462T>C	XP_006715487.1:p.Trp8488Arg
XM_006715425.2:c.25393T>C	XP_006715488.1:p.Trp8465Arg
XM_011535641.2:c.25459T>C	XP_011533943.1:p.Trp8487Arg
XM_011535642.2:c.25447T>C	XP_011533944.1:p.Trp8483Arg
XM_011535645.2:c.23230T>C	XP_011533947.1:p.Trp7744Arg
XM_017010608.1:c.25462T>C	XP_016866097.1:p.Trp8488Arg
XM_017010609.1:c.25462T>C	XP_016866098.1:p.Trp8488Arg
XM_017010610.1:c.25441T>C	XP_016866099.1:p.Trp8481Arg
XM_017010611.2:c.25435T>C	XP_016866100.1:p.Trp8479Arg
XM_017010612.1:c.25384T>C	XP_016866101.1:p.Trp8462Arg
XM_017010613.1:c.25390T>C	XP_016866102.1:p.Trp8464Arg
XM_017010614.1:c.25306T>C	XP_016866103.1:p.Trp8436Arg
XM_017010615.1:c.25237T>C	XP_016866104.1:p.Trp8413Arg
XM_017010616.1:c.25393T>C	XP_016866105.1:p.Trp8465Arg
XM_017010617.1:c.25390T>C	XP_016866106.1:p.Trp8464Arg
XM_017010618.1:c.25378T>C	XP_016866107.1:p.Trp8460Arg
XM_017010619.1:c.23737T>C	XP_016866108.1:p.Trp7913Arg
NM_182961.4:c.25357T>C MANE Select	NP_892006.3:p.Trp8453Arg
NM_001347701.2:c.1963T>C	NP_001334630.1:p.Trp655Arg
NM_001347702.2:c.1891T>C MANE Plus Clinical	NP_001334631.1:p.Trp631Arg
NM_033071.5:c.25213T>C	NP_149062.2:p.Trp8405Arg