Canonical Allele Identifier: CA452747274

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464878T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143743T>G , CM000668.2:g.152143743T>G	GRCh38
NC_000006.11:g.152464878T>G , CM000668.1:g.152464878T>G	GRCh37
NC_000006.10:g.152506571T>G	NCBI36
NG_012855.1:g.498657A>C
NG_012855.2:g.498657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1533A>C MANE Plus Clinical	ENSP00000346701.4:p.Ser511=
ENST00000367255.10:c.24999A>C MANE Select	ENSP00000356224.5:p.Ser8333=
ENST00000423061.6:c.24855A>C	ENSP00000396024.1:p.Ser8285=
ENST00000672154.1:c.401A>C
ENST00000672169.1:c.734A>C
ENST00000673173.1:c.891-3582A>C
ENST00000673451.1:c.771A>C	ENSP00000500189.1:p.Ser257=
ENST00000341594.9:c.23784A>C	ENSP00000341887.6:p.Ser7928=
ENST00000347037.9:n.1747A>C
ENST00000354674.4:c.1533A>C	ENSP00000346701.4:p.Ser511=
ENST00000367251.7:c.3834A>C	ENSP00000356220.3:p.Ser1278=
ENST00000367255.9:c.24999A>C	ENSP00000356224.5:p.Ser8333=
ENST00000367256.9:n.8691A>C
ENST00000367257.8:c.2937A>C	ENSP00000356226.4:p.Ser979=
ENST00000409694.6:n.8583A>C
ENST00000423061.5:c.24855A>C	ENSP00000396024.1:p.Ser8285=
ENST00000460912.6:n.1613A>C
ENST00000478916.5:n.4021A>C
ENST00000536990.5:n.1836A>C
ENST00000539504.5:c.1464A>C	ENSP00000441052.1:p.Ser488=
NM_033071.3:c.24855A>C	NP_149062.1:p.Ser8285=
NM_182961.3:c.24999A>C	NP_892006.3:p.Ser8333=
XM_006715407.1:c.25104A>C	XP_006715470.1:p.Ser8368=
XM_006715408.1:c.25092A>C	XP_006715471.1:p.Ser8364=
XM_006715409.1:c.25083A>C	XP_006715472.1:p.Ser8361=
XM_006715410.1:c.25104A>C	XP_006715473.1:p.Ser8368=
XM_006715411.1:c.25053A>C	XP_006715474.1:p.Ser8351=
XM_006715412.1:c.25089A>C	XP_006715475.1:p.Ser8363=
XM_006715413.1:c.25035A>C	XP_006715476.1:p.Ser8345=
XM_006715414.1:c.25032A>C	XP_006715477.1:p.Ser8344=
XM_006715415.1:c.25035A>C	XP_006715478.1:p.Ser8345=
XM_006715416.1:c.25020A>C	XP_006715479.1:p.Ser8340=
XM_006715417.1:c.24963A>C	XP_006715480.1:p.Ser8321=
XM_006715420.1:c.24951A>C	XP_006715483.1:p.Ser8317=
XM_006715421.1:c.24948A>C	XP_006715484.1:p.Ser8316=
XM_006715422.1:c.24945A>C	XP_006715485.1:p.Ser8315=
XM_006715423.1:c.25104A>C	XP_006715486.1:p.Ser8368=
XM_006715424.1:c.25104A>C	XP_006715487.1:p.Ser8368=
XM_006715425.1:c.25035A>C	XP_006715488.1:p.Ser8345=
XM_011535641.1:c.25101A>C	XP_011533943.1:p.Ser8367=
XM_011535642.1:c.25089A>C	XP_011533944.1:p.Ser8363=
XM_011535643.1:c.24939A>C	XP_011533945.1:p.Ser8313=
XM_011535644.1:c.23379A>C	XP_011533946.1:p.Ser7793=
XM_011535645.1:c.22872A>C	XP_011533947.1:p.Ser7624=
XM_011535647.1:c.18339A>C	XP_011533949.1:p.Ser6113=
NM_001347701.1:c.1605A>C	NP_001334630.1:p.Ser535=
NM_001347702.1:c.1533A>C	NP_001334631.1:p.Ser511=
XM_006715408.2:c.25092A>C	XP_006715471.1:p.Ser8364=
XM_006715410.2:c.25104A>C	XP_006715473.1:p.Ser8368=
XM_006715412.2:c.25089A>C	XP_006715475.1:p.Ser8363=
XM_006715413.2:c.25035A>C	XP_006715476.1:p.Ser8345=
XM_006715415.2:c.25035A>C	XP_006715478.1:p.Ser8345=
XM_006715416.2:c.25020A>C	XP_006715479.1:p.Ser8340=
XM_006715417.2:c.24963A>C	XP_006715480.1:p.Ser8321=
XM_006715420.2:c.24951A>C	XP_006715483.1:p.Ser8317=
XM_006715421.2:c.24948A>C	XP_006715484.1:p.Ser8316=
XM_006715423.2:c.25104A>C	XP_006715486.1:p.Ser8368=
XM_006715424.2:c.25104A>C	XP_006715487.1:p.Ser8368=
XM_006715425.2:c.25035A>C	XP_006715488.1:p.Ser8345=
XM_011535641.2:c.25101A>C	XP_011533943.1:p.Ser8367=
XM_011535642.2:c.25089A>C	XP_011533944.1:p.Ser8363=
XM_011535645.2:c.22872A>C	XP_011533947.1:p.Ser7624=
XM_017010608.1:c.25104A>C	XP_016866097.1:p.Ser8368=
XM_017010609.1:c.25104A>C	XP_016866098.1:p.Ser8368=
XM_017010610.1:c.25083A>C	XP_016866099.1:p.Ser8361=
XM_017010611.2:c.25077A>C	XP_016866100.1:p.Ser8359=
XM_017010612.1:c.25026A>C	XP_016866101.1:p.Ser8342=
XM_017010613.1:c.25032A>C	XP_016866102.1:p.Ser8344=
XM_017010614.1:c.24948A>C	XP_016866103.1:p.Ser8316=
XM_017010615.1:c.24879A>C	XP_016866104.1:p.Ser8293=
XM_017010616.1:c.25035A>C	XP_016866105.1:p.Ser8345=
XM_017010617.1:c.25032A>C	XP_016866106.1:p.Ser8344=
XM_017010618.1:c.25020A>C	XP_016866107.1:p.Ser8340=
XM_017010619.1:c.23379A>C	XP_016866108.1:p.Ser7793=
NM_182961.4:c.24999A>C MANE Select	NP_892006.3:p.Ser8333=
NM_001347701.2:c.1605A>C	NP_001334630.1:p.Ser535=
NM_001347702.2:c.1533A>C MANE Plus Clinical	NP_001334631.1:p.Ser511=
NM_033071.5:c.24855A>C	NP_149062.2:p.Ser8285=