Canonical Allele Identifier: CA366080935

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461275A>G (hg19) ; chr6:g.152140140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140140A>G , CM000668.2:g.152140140A>G	GRCh38
NC_000006.11:g.152461275A>G , CM000668.1:g.152461275A>G	GRCh37
NC_000006.10:g.152502968A>G	NCBI36
NG_012855.1:g.502260T>C
NG_012855.2:g.502260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1802T>C MANE Plus Clinical	ENSP00000346701.4:p.Leu601Pro
ENST00000367255.10:c.25268T>C MANE Select	ENSP00000356224.5:p.Leu8423Pro
ENST00000423061.6:c.25124T>C	ENSP00000396024.1:p.Leu8375Pro
ENST00000672154.1:c.670T>C
ENST00000672169.1:c.1003T>C
ENST00000673173.1:c.912T>C
ENST00000673451.1:c.1040T>C	ENSP00000500189.1:p.Leu347Pro
ENST00000341594.9:c.24053T>C	ENSP00000341887.6:p.Leu8018Pro
ENST00000347037.9:n.2016T>C
ENST00000354674.4:c.1802T>C	ENSP00000346701.4:p.Leu601Pro
ENST00000367251.7:c.4103T>C	ENSP00000356220.3:p.Leu1368Pro
ENST00000367255.9:c.25268T>C	ENSP00000356224.5:p.Leu8423Pro
ENST00000367256.9:n.8960T>C
ENST00000367257.8:c.3206T>C	ENSP00000356226.4:p.Leu1069Pro
ENST00000409694.6:n.8852T>C
ENST00000423061.5:c.25124T>C	ENSP00000396024.1:p.Leu8375Pro
ENST00000460912.6:n.1882T>C
ENST00000478916.5:n.4290T>C
ENST00000536990.5:n.2105T>C
ENST00000539504.5:c.1733T>C	ENSP00000441052.1:p.Leu578Pro
NM_033071.3:c.25124T>C	NP_149062.1:p.Leu8375Pro
NM_182961.3:c.25268T>C	NP_892006.3:p.Leu8423Pro
XM_006715407.1:c.25373T>C	XP_006715470.1:p.Leu8458Pro
XM_006715408.1:c.25361T>C	XP_006715471.1:p.Leu8454Pro
XM_006715409.1:c.25352T>C	XP_006715472.1:p.Leu8451Pro
XM_006715410.1:c.25373T>C	XP_006715473.1:p.Leu8458Pro
XM_006715411.1:c.25322T>C	XP_006715474.1:p.Leu8441Pro
XM_006715412.1:c.25358T>C	XP_006715475.1:p.Leu8453Pro
XM_006715413.1:c.25304T>C	XP_006715476.1:p.Leu8435Pro
XM_006715414.1:c.25301T>C	XP_006715477.1:p.Leu8434Pro
XM_006715415.1:c.25304T>C	XP_006715478.1:p.Leu8435Pro
XM_006715416.1:c.25289T>C	XP_006715479.1:p.Leu8430Pro
XM_006715417.1:c.25232T>C	XP_006715480.1:p.Leu8411Pro
XM_006715420.1:c.25220T>C	XP_006715483.1:p.Leu8407Pro
XM_006715421.1:c.25217T>C	XP_006715484.1:p.Leu8406Pro
XM_006715422.1:c.25214T>C	XP_006715485.1:p.Leu8405Pro
XM_006715423.1:c.25373T>C	XP_006715486.1:p.Leu8458Pro
XM_006715424.1:c.25373T>C	XP_006715487.1:p.Leu8458Pro
XM_006715425.1:c.25304T>C	XP_006715488.1:p.Leu8435Pro
XM_011535641.1:c.25370T>C	XP_011533943.1:p.Leu8457Pro
XM_011535642.1:c.25358T>C	XP_011533944.1:p.Leu8453Pro
XM_011535643.1:c.25208T>C	XP_011533945.1:p.Leu8403Pro
XM_011535644.1:c.23648T>C	XP_011533946.1:p.Leu7883Pro
XM_011535645.1:c.23141T>C	XP_011533947.1:p.Leu7714Pro
XM_011535647.1:c.18608T>C	XP_011533949.1:p.Leu6203Pro
NM_001347701.1:c.1874T>C	NP_001334630.1:p.Leu625Pro
NM_001347702.1:c.1802T>C	NP_001334631.1:p.Leu601Pro
XM_006715408.2:c.25361T>C	XP_006715471.1:p.Leu8454Pro
XM_006715410.2:c.25373T>C	XP_006715473.1:p.Leu8458Pro
XM_006715412.2:c.25358T>C	XP_006715475.1:p.Leu8453Pro
XM_006715413.2:c.25304T>C	XP_006715476.1:p.Leu8435Pro
XM_006715415.2:c.25304T>C	XP_006715478.1:p.Leu8435Pro
XM_006715416.2:c.25289T>C	XP_006715479.1:p.Leu8430Pro
XM_006715417.2:c.25232T>C	XP_006715480.1:p.Leu8411Pro
XM_006715420.2:c.25220T>C	XP_006715483.1:p.Leu8407Pro
XM_006715421.2:c.25217T>C	XP_006715484.1:p.Leu8406Pro
XM_006715423.2:c.25373T>C	XP_006715486.1:p.Leu8458Pro
XM_006715424.2:c.25373T>C	XP_006715487.1:p.Leu8458Pro
XM_006715425.2:c.25304T>C	XP_006715488.1:p.Leu8435Pro
XM_011535641.2:c.25370T>C	XP_011533943.1:p.Leu8457Pro
XM_011535642.2:c.25358T>C	XP_011533944.1:p.Leu8453Pro
XM_011535645.2:c.23141T>C	XP_011533947.1:p.Leu7714Pro
XM_017010608.1:c.25373T>C	XP_016866097.1:p.Leu8458Pro
XM_017010609.1:c.25373T>C	XP_016866098.1:p.Leu8458Pro
XM_017010610.1:c.25352T>C	XP_016866099.1:p.Leu8451Pro
XM_017010611.2:c.25346T>C	XP_016866100.1:p.Leu8449Pro
XM_017010612.1:c.25295T>C	XP_016866101.1:p.Leu8432Pro
XM_017010613.1:c.25301T>C	XP_016866102.1:p.Leu8434Pro
XM_017010614.1:c.25217T>C	XP_016866103.1:p.Leu8406Pro
XM_017010615.1:c.25148T>C	XP_016866104.1:p.Leu8383Pro
XM_017010616.1:c.25304T>C	XP_016866105.1:p.Leu8435Pro
XM_017010617.1:c.25301T>C	XP_016866106.1:p.Leu8434Pro
XM_017010618.1:c.25289T>C	XP_016866107.1:p.Leu8430Pro
XM_017010619.1:c.23648T>C	XP_016866108.1:p.Leu7883Pro
NM_182961.4:c.25268T>C MANE Select	NP_892006.3:p.Leu8423Pro
NM_001347701.2:c.1874T>C	NP_001334630.1:p.Leu625Pro
NM_001347702.2:c.1802T>C MANE Plus Clinical	NP_001334631.1:p.Leu601Pro
NM_033071.5:c.25124T>C	NP_149062.2:p.Leu8375Pro