Canonical Allele Identifier: CA452969866

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461169G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140034G>A , CM000668.2:g.152140034G>A	GRCh38
NC_000006.11:g.152461169G>A , CM000668.1:g.152461169G>A	GRCh37
NC_000006.10:g.152502862G>A	NCBI36
NG_012855.1:g.502366C>T
NG_012855.2:g.502366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1908C>T MANE Plus Clinical	ENSP00000346701.4:p.Asp636=
ENST00000367255.10:c.25374C>T MANE Select	ENSP00000356224.5:p.Asp8458=
ENST00000423061.6:c.25230C>T	ENSP00000396024.1:p.Asp8410=
ENST00000672154.1:c.776C>T
ENST00000672169.1:c.1109C>T
ENST00000673173.1:c.1018C>T
ENST00000673451.1:c.1146C>T	ENSP00000500189.1:p.Asp382=
ENST00000341594.9:c.24159C>T	ENSP00000341887.6:p.Asp8053=
ENST00000347037.9:n.2122C>T
ENST00000354674.4:c.1908C>T	ENSP00000346701.4:p.Asp636=
ENST00000367251.7:c.4209C>T	ENSP00000356220.3:p.Asp1403=
ENST00000367255.9:c.25374C>T	ENSP00000356224.5:p.Asp8458=
ENST00000367256.9:n.9066C>T
ENST00000367257.8:c.3312C>T	ENSP00000356226.4:p.Asp1104=
ENST00000409694.6:n.8958C>T
ENST00000423061.5:c.25230C>T	ENSP00000396024.1:p.Asp8410=
ENST00000460912.6:n.1988C>T
ENST00000478916.5:n.4396C>T
ENST00000536990.5:n.2211C>T
ENST00000539504.5:c.1839C>T	ENSP00000441052.1:p.Asp613=
NM_033071.3:c.25230C>T	NP_149062.1:p.Asp8410=
NM_182961.3:c.25374C>T	NP_892006.3:p.Asp8458=
XM_006715407.1:c.25479C>T	XP_006715470.1:p.Asp8493=
XM_006715408.1:c.25467C>T	XP_006715471.1:p.Asp8489=
XM_006715409.1:c.25458C>T	XP_006715472.1:p.Asp8486=
XM_006715410.1:c.25479C>T	XP_006715473.1:p.Asp8493=
XM_006715411.1:c.25428C>T	XP_006715474.1:p.Asp8476=
XM_006715412.1:c.25464C>T	XP_006715475.1:p.Asp8488=
XM_006715413.1:c.25410C>T	XP_006715476.1:p.Asp8470=
XM_006715414.1:c.25407C>T	XP_006715477.1:p.Asp8469=
XM_006715415.1:c.25410C>T	XP_006715478.1:p.Asp8470=
XM_006715416.1:c.25395C>T	XP_006715479.1:p.Asp8465=
XM_006715417.1:c.25338C>T	XP_006715480.1:p.Asp8446=
XM_006715420.1:c.25326C>T	XP_006715483.1:p.Asp8442=
XM_006715421.1:c.25323C>T	XP_006715484.1:p.Asp8441=
XM_006715422.1:c.25320C>T	XP_006715485.1:p.Asp8440=
XM_006715423.1:c.25479C>T	XP_006715486.1:p.Asp8493=
XM_006715424.1:c.25479C>T	XP_006715487.1:p.Asp8493=
XM_006715425.1:c.25410C>T	XP_006715488.1:p.Asp8470=
XM_011535641.1:c.25476C>T	XP_011533943.1:p.Asp8492=
XM_011535642.1:c.25464C>T	XP_011533944.1:p.Asp8488=
XM_011535643.1:c.25314C>T	XP_011533945.1:p.Asp8438=
XM_011535644.1:c.23754C>T	XP_011533946.1:p.Asp7918=
XM_011535645.1:c.23247C>T	XP_011533947.1:p.Asp7749=
XM_011535647.1:c.18714C>T	XP_011533949.1:p.Asp6238=
NM_001347701.1:c.1980C>T	NP_001334630.1:p.Asp660=
NM_001347702.1:c.1908C>T	NP_001334631.1:p.Asp636=
XM_006715408.2:c.25467C>T	XP_006715471.1:p.Asp8489=
XM_006715410.2:c.25479C>T	XP_006715473.1:p.Asp8493=
XM_006715412.2:c.25464C>T	XP_006715475.1:p.Asp8488=
XM_006715413.2:c.25410C>T	XP_006715476.1:p.Asp8470=
XM_006715415.2:c.25410C>T	XP_006715478.1:p.Asp8470=
XM_006715416.2:c.25395C>T	XP_006715479.1:p.Asp8465=
XM_006715417.2:c.25338C>T	XP_006715480.1:p.Asp8446=
XM_006715420.2:c.25326C>T	XP_006715483.1:p.Asp8442=
XM_006715421.2:c.25323C>T	XP_006715484.1:p.Asp8441=
XM_006715423.2:c.25479C>T	XP_006715486.1:p.Asp8493=
XM_006715424.2:c.25479C>T	XP_006715487.1:p.Asp8493=
XM_006715425.2:c.25410C>T	XP_006715488.1:p.Asp8470=
XM_011535641.2:c.25476C>T	XP_011533943.1:p.Asp8492=
XM_011535642.2:c.25464C>T	XP_011533944.1:p.Asp8488=
XM_011535645.2:c.23247C>T	XP_011533947.1:p.Asp7749=
XM_017010608.1:c.25479C>T	XP_016866097.1:p.Asp8493=
XM_017010609.1:c.25479C>T	XP_016866098.1:p.Asp8493=
XM_017010610.1:c.25458C>T	XP_016866099.1:p.Asp8486=
XM_017010611.2:c.25452C>T	XP_016866100.1:p.Asp8484=
XM_017010612.1:c.25401C>T	XP_016866101.1:p.Asp8467=
XM_017010613.1:c.25407C>T	XP_016866102.1:p.Asp8469=
XM_017010614.1:c.25323C>T	XP_016866103.1:p.Asp8441=
XM_017010615.1:c.25254C>T	XP_016866104.1:p.Asp8418=
XM_017010616.1:c.25410C>T	XP_016866105.1:p.Asp8470=
XM_017010617.1:c.25407C>T	XP_016866106.1:p.Asp8469=
XM_017010618.1:c.25395C>T	XP_016866107.1:p.Asp8465=
XM_017010619.1:c.23754C>T	XP_016866108.1:p.Asp7918=
NM_182961.4:c.25374C>T MANE Select	NP_892006.3:p.Asp8458=
NM_001347701.2:c.1980C>T	NP_001334630.1:p.Asp660=
NM_001347702.2:c.1908C>T MANE Plus Clinical	NP_001334631.1:p.Asp636=
NM_033071.5:c.25230C>T	NP_149062.2:p.Asp8410=