Canonical Allele Identifier: CA452747204

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464773G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143638G>C , CM000668.2:g.152143638G>C	GRCh38
NC_000006.11:g.152464773G>C , CM000668.1:g.152464773G>C	GRCh37
NC_000006.10:g.152506466G>C	NCBI36
NG_012855.1:g.498762C>G
NG_012855.2:g.498762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1638C>G MANE Plus Clinical	ENSP00000346701.4:p.Thr546=
ENST00000367255.10:c.25104C>G MANE Select	ENSP00000356224.5:p.Thr8368=
ENST00000423061.6:c.24960C>G	ENSP00000396024.1:p.Thr8320=
ENST00000672154.1:c.506C>G
ENST00000672169.1:c.839C>G
ENST00000673173.1:c.891-3477C>G
ENST00000673451.1:c.876C>G	ENSP00000500189.1:p.Thr292=
ENST00000341594.9:c.23889C>G	ENSP00000341887.6:p.Thr7963=
ENST00000347037.9:n.1852C>G
ENST00000354674.4:c.1638C>G	ENSP00000346701.4:p.Thr546=
ENST00000367251.7:c.3939C>G	ENSP00000356220.3:p.Thr1313=
ENST00000367255.9:c.25104C>G	ENSP00000356224.5:p.Thr8368=
ENST00000367256.9:n.8796C>G
ENST00000367257.8:c.3042C>G	ENSP00000356226.4:p.Thr1014=
ENST00000409694.6:n.8688C>G
ENST00000423061.5:c.24960C>G	ENSP00000396024.1:p.Thr8320=
ENST00000460912.6:n.1718C>G
ENST00000478916.5:n.4126C>G
ENST00000536990.5:n.1941C>G
ENST00000539504.5:c.1569C>G	ENSP00000441052.1:p.Thr523=
NM_033071.3:c.24960C>G	NP_149062.1:p.Thr8320=
NM_182961.3:c.25104C>G	NP_892006.3:p.Thr8368=
XM_006715407.1:c.25209C>G	XP_006715470.1:p.Thr8403=
XM_006715408.1:c.25197C>G	XP_006715471.1:p.Thr8399=
XM_006715409.1:c.25188C>G	XP_006715472.1:p.Thr8396=
XM_006715410.1:c.25209C>G	XP_006715473.1:p.Thr8403=
XM_006715411.1:c.25158C>G	XP_006715474.1:p.Thr8386=
XM_006715412.1:c.25194C>G	XP_006715475.1:p.Thr8398=
XM_006715413.1:c.25140C>G	XP_006715476.1:p.Thr8380=
XM_006715414.1:c.25137C>G	XP_006715477.1:p.Thr8379=
XM_006715415.1:c.25140C>G	XP_006715478.1:p.Thr8380=
XM_006715416.1:c.25125C>G	XP_006715479.1:p.Thr8375=
XM_006715417.1:c.25068C>G	XP_006715480.1:p.Thr8356=
XM_006715420.1:c.25056C>G	XP_006715483.1:p.Thr8352=
XM_006715421.1:c.25053C>G	XP_006715484.1:p.Thr8351=
XM_006715422.1:c.25050C>G	XP_006715485.1:p.Thr8350=
XM_006715423.1:c.25209C>G	XP_006715486.1:p.Thr8403=
XM_006715424.1:c.25209C>G	XP_006715487.1:p.Thr8403=
XM_006715425.1:c.25140C>G	XP_006715488.1:p.Thr8380=
XM_011535641.1:c.25206C>G	XP_011533943.1:p.Thr8402=
XM_011535642.1:c.25194C>G	XP_011533944.1:p.Thr8398=
XM_011535643.1:c.25044C>G	XP_011533945.1:p.Thr8348=
XM_011535644.1:c.23484C>G	XP_011533946.1:p.Thr7828=
XM_011535645.1:c.22977C>G	XP_011533947.1:p.Thr7659=
XM_011535647.1:c.18444C>G	XP_011533949.1:p.Thr6148=
NM_001347701.1:c.1710C>G	NP_001334630.1:p.Thr570=
NM_001347702.1:c.1638C>G	NP_001334631.1:p.Thr546=
XM_006715408.2:c.25197C>G	XP_006715471.1:p.Thr8399=
XM_006715410.2:c.25209C>G	XP_006715473.1:p.Thr8403=
XM_006715412.2:c.25194C>G	XP_006715475.1:p.Thr8398=
XM_006715413.2:c.25140C>G	XP_006715476.1:p.Thr8380=
XM_006715415.2:c.25140C>G	XP_006715478.1:p.Thr8380=
XM_006715416.2:c.25125C>G	XP_006715479.1:p.Thr8375=
XM_006715417.2:c.25068C>G	XP_006715480.1:p.Thr8356=
XM_006715420.2:c.25056C>G	XP_006715483.1:p.Thr8352=
XM_006715421.2:c.25053C>G	XP_006715484.1:p.Thr8351=
XM_006715423.2:c.25209C>G	XP_006715486.1:p.Thr8403=
XM_006715424.2:c.25209C>G	XP_006715487.1:p.Thr8403=
XM_006715425.2:c.25140C>G	XP_006715488.1:p.Thr8380=
XM_011535641.2:c.25206C>G	XP_011533943.1:p.Thr8402=
XM_011535642.2:c.25194C>G	XP_011533944.1:p.Thr8398=
XM_011535645.2:c.22977C>G	XP_011533947.1:p.Thr7659=
XM_017010608.1:c.25209C>G	XP_016866097.1:p.Thr8403=
XM_017010609.1:c.25209C>G	XP_016866098.1:p.Thr8403=
XM_017010610.1:c.25188C>G	XP_016866099.1:p.Thr8396=
XM_017010611.2:c.25182C>G	XP_016866100.1:p.Thr8394=
XM_017010612.1:c.25131C>G	XP_016866101.1:p.Thr8377=
XM_017010613.1:c.25137C>G	XP_016866102.1:p.Thr8379=
XM_017010614.1:c.25053C>G	XP_016866103.1:p.Thr8351=
XM_017010615.1:c.24984C>G	XP_016866104.1:p.Thr8328=
XM_017010616.1:c.25140C>G	XP_016866105.1:p.Thr8380=
XM_017010617.1:c.25137C>G	XP_016866106.1:p.Thr8379=
XM_017010618.1:c.25125C>G	XP_016866107.1:p.Thr8375=
XM_017010619.1:c.23484C>G	XP_016866108.1:p.Thr7828=
NM_182961.4:c.25104C>G MANE Select	NP_892006.3:p.Thr8368=
NM_001347701.2:c.1710C>G	NP_001334630.1:p.Thr570=
NM_001347702.2:c.1638C>G MANE Plus Clinical	NP_001334631.1:p.Thr546=
NM_033071.5:c.24960C>G	NP_149062.2:p.Thr8320=