Canonical Allele Identifier: CA366080311

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461180A>G (hg19) ; chr6:g.152140045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140045A>G , CM000668.2:g.152140045A>G	GRCh38
NC_000006.11:g.152461180A>G , CM000668.1:g.152461180A>G	GRCh37
NC_000006.10:g.152502873A>G	NCBI36
NG_012855.1:g.502355T>C
NG_012855.2:g.502355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1897T>C MANE Plus Clinical	ENSP00000346701.4:p.Trp633Arg
ENST00000367255.10:c.25363T>C MANE Select	ENSP00000356224.5:p.Trp8455Arg
ENST00000423061.6:c.25219T>C	ENSP00000396024.1:p.Trp8407Arg
ENST00000672154.1:c.765T>C
ENST00000672169.1:c.1098T>C
ENST00000673173.1:c.1007T>C
ENST00000673451.1:c.1135T>C	ENSP00000500189.1:p.Trp379Arg
ENST00000341594.9:c.24148T>C	ENSP00000341887.6:p.Trp8050Arg
ENST00000347037.9:n.2111T>C
ENST00000354674.4:c.1897T>C	ENSP00000346701.4:p.Trp633Arg
ENST00000367251.7:c.4198T>C	ENSP00000356220.3:p.Trp1400Arg
ENST00000367255.9:c.25363T>C	ENSP00000356224.5:p.Trp8455Arg
ENST00000367256.9:n.9055T>C
ENST00000367257.8:c.3301T>C	ENSP00000356226.4:p.Trp1101Arg
ENST00000409694.6:n.8947T>C
ENST00000423061.5:c.25219T>C	ENSP00000396024.1:p.Trp8407Arg
ENST00000460912.6:n.1977T>C
ENST00000478916.5:n.4385T>C
ENST00000536990.5:n.2200T>C
ENST00000539504.5:c.1828T>C	ENSP00000441052.1:p.Trp610Arg
NM_033071.3:c.25219T>C	NP_149062.1:p.Trp8407Arg
NM_182961.3:c.25363T>C	NP_892006.3:p.Trp8455Arg
XM_006715407.1:c.25468T>C	XP_006715470.1:p.Trp8490Arg
XM_006715408.1:c.25456T>C	XP_006715471.1:p.Trp8486Arg
XM_006715409.1:c.25447T>C	XP_006715472.1:p.Trp8483Arg
XM_006715410.1:c.25468T>C	XP_006715473.1:p.Trp8490Arg
XM_006715411.1:c.25417T>C	XP_006715474.1:p.Trp8473Arg
XM_006715412.1:c.25453T>C	XP_006715475.1:p.Trp8485Arg
XM_006715413.1:c.25399T>C	XP_006715476.1:p.Trp8467Arg
XM_006715414.1:c.25396T>C	XP_006715477.1:p.Trp8466Arg
XM_006715415.1:c.25399T>C	XP_006715478.1:p.Trp8467Arg
XM_006715416.1:c.25384T>C	XP_006715479.1:p.Trp8462Arg
XM_006715417.1:c.25327T>C	XP_006715480.1:p.Trp8443Arg
XM_006715420.1:c.25315T>C	XP_006715483.1:p.Trp8439Arg
XM_006715421.1:c.25312T>C	XP_006715484.1:p.Trp8438Arg
XM_006715422.1:c.25309T>C	XP_006715485.1:p.Trp8437Arg
XM_006715423.1:c.25468T>C	XP_006715486.1:p.Trp8490Arg
XM_006715424.1:c.25468T>C	XP_006715487.1:p.Trp8490Arg
XM_006715425.1:c.25399T>C	XP_006715488.1:p.Trp8467Arg
XM_011535641.1:c.25465T>C	XP_011533943.1:p.Trp8489Arg
XM_011535642.1:c.25453T>C	XP_011533944.1:p.Trp8485Arg
XM_011535643.1:c.25303T>C	XP_011533945.1:p.Trp8435Arg
XM_011535644.1:c.23743T>C	XP_011533946.1:p.Trp7915Arg
XM_011535645.1:c.23236T>C	XP_011533947.1:p.Trp7746Arg
XM_011535647.1:c.18703T>C	XP_011533949.1:p.Trp6235Arg
NM_001347701.1:c.1969T>C	NP_001334630.1:p.Trp657Arg
NM_001347702.1:c.1897T>C	NP_001334631.1:p.Trp633Arg
XM_006715408.2:c.25456T>C	XP_006715471.1:p.Trp8486Arg
XM_006715410.2:c.25468T>C	XP_006715473.1:p.Trp8490Arg
XM_006715412.2:c.25453T>C	XP_006715475.1:p.Trp8485Arg
XM_006715413.2:c.25399T>C	XP_006715476.1:p.Trp8467Arg
XM_006715415.2:c.25399T>C	XP_006715478.1:p.Trp8467Arg
XM_006715416.2:c.25384T>C	XP_006715479.1:p.Trp8462Arg
XM_006715417.2:c.25327T>C	XP_006715480.1:p.Trp8443Arg
XM_006715420.2:c.25315T>C	XP_006715483.1:p.Trp8439Arg
XM_006715421.2:c.25312T>C	XP_006715484.1:p.Trp8438Arg
XM_006715423.2:c.25468T>C	XP_006715486.1:p.Trp8490Arg
XM_006715424.2:c.25468T>C	XP_006715487.1:p.Trp8490Arg
XM_006715425.2:c.25399T>C	XP_006715488.1:p.Trp8467Arg
XM_011535641.2:c.25465T>C	XP_011533943.1:p.Trp8489Arg
XM_011535642.2:c.25453T>C	XP_011533944.1:p.Trp8485Arg
XM_011535645.2:c.23236T>C	XP_011533947.1:p.Trp7746Arg
XM_017010608.1:c.25468T>C	XP_016866097.1:p.Trp8490Arg
XM_017010609.1:c.25468T>C	XP_016866098.1:p.Trp8490Arg
XM_017010610.1:c.25447T>C	XP_016866099.1:p.Trp8483Arg
XM_017010611.2:c.25441T>C	XP_016866100.1:p.Trp8481Arg
XM_017010612.1:c.25390T>C	XP_016866101.1:p.Trp8464Arg
XM_017010613.1:c.25396T>C	XP_016866102.1:p.Trp8466Arg
XM_017010614.1:c.25312T>C	XP_016866103.1:p.Trp8438Arg
XM_017010615.1:c.25243T>C	XP_016866104.1:p.Trp8415Arg
XM_017010616.1:c.25399T>C	XP_016866105.1:p.Trp8467Arg
XM_017010617.1:c.25396T>C	XP_016866106.1:p.Trp8466Arg
XM_017010618.1:c.25384T>C	XP_016866107.1:p.Trp8462Arg
XM_017010619.1:c.23743T>C	XP_016866108.1:p.Trp7915Arg
NM_182961.4:c.25363T>C MANE Select	NP_892006.3:p.Trp8455Arg
NM_001347701.2:c.1969T>C	NP_001334630.1:p.Trp657Arg
NM_001347702.2:c.1897T>C MANE Plus Clinical	NP_001334631.1:p.Trp633Arg
NM_033071.5:c.25219T>C	NP_149062.2:p.Trp8407Arg