Canonical Allele Identifier: CA366081053

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461291T>G (hg19) ; chr6:g.152140156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140156T>G , CM000668.2:g.152140156T>G	GRCh38
NC_000006.11:g.152461291T>G , CM000668.1:g.152461291T>G	GRCh37
NC_000006.10:g.152502984T>G	NCBI36
NG_012855.1:g.502244A>C
NG_012855.2:g.502244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1786A>C MANE Plus Clinical	ENSP00000346701.4:p.Ile596Leu
ENST00000367255.10:c.25252A>C MANE Select	ENSP00000356224.5:p.Ile8418Leu
ENST00000423061.6:c.25108A>C	ENSP00000396024.1:p.Ile8370Leu
ENST00000672154.1:c.654A>C
ENST00000672169.1:c.987A>C
ENST00000673173.1:c.896A>C
ENST00000673451.1:c.1024A>C	ENSP00000500189.1:p.Ile342Leu
ENST00000341594.9:c.24037A>C	ENSP00000341887.6:p.Ile8013Leu
ENST00000347037.9:n.2000A>C
ENST00000354674.4:c.1786A>C	ENSP00000346701.4:p.Ile596Leu
ENST00000367251.7:c.4087A>C	ENSP00000356220.3:p.Ile1363Leu
ENST00000367255.9:c.25252A>C	ENSP00000356224.5:p.Ile8418Leu
ENST00000367256.9:n.8944A>C
ENST00000367257.8:c.3190A>C	ENSP00000356226.4:p.Ile1064Leu
ENST00000409694.6:n.8836A>C
ENST00000423061.5:c.25108A>C	ENSP00000396024.1:p.Ile8370Leu
ENST00000460912.6:n.1866A>C
ENST00000478916.5:n.4274A>C
ENST00000536990.5:n.2089A>C
ENST00000539504.5:c.1717A>C	ENSP00000441052.1:p.Ile573Leu
NM_033071.3:c.25108A>C	NP_149062.1:p.Ile8370Leu
NM_182961.3:c.25252A>C	NP_892006.3:p.Ile8418Leu
XM_006715407.1:c.25357A>C	XP_006715470.1:p.Ile8453Leu
XM_006715408.1:c.25345A>C	XP_006715471.1:p.Ile8449Leu
XM_006715409.1:c.25336A>C	XP_006715472.1:p.Ile8446Leu
XM_006715410.1:c.25357A>C	XP_006715473.1:p.Ile8453Leu
XM_006715411.1:c.25306A>C	XP_006715474.1:p.Ile8436Leu
XM_006715412.1:c.25342A>C	XP_006715475.1:p.Ile8448Leu
XM_006715413.1:c.25288A>C	XP_006715476.1:p.Ile8430Leu
XM_006715414.1:c.25285A>C	XP_006715477.1:p.Ile8429Leu
XM_006715415.1:c.25288A>C	XP_006715478.1:p.Ile8430Leu
XM_006715416.1:c.25273A>C	XP_006715479.1:p.Ile8425Leu
XM_006715417.1:c.25216A>C	XP_006715480.1:p.Ile8406Leu
XM_006715420.1:c.25204A>C	XP_006715483.1:p.Ile8402Leu
XM_006715421.1:c.25201A>C	XP_006715484.1:p.Ile8401Leu
XM_006715422.1:c.25198A>C	XP_006715485.1:p.Ile8400Leu
XM_006715423.1:c.25357A>C	XP_006715486.1:p.Ile8453Leu
XM_006715424.1:c.25357A>C	XP_006715487.1:p.Ile8453Leu
XM_006715425.1:c.25288A>C	XP_006715488.1:p.Ile8430Leu
XM_011535641.1:c.25354A>C	XP_011533943.1:p.Ile8452Leu
XM_011535642.1:c.25342A>C	XP_011533944.1:p.Ile8448Leu
XM_011535643.1:c.25192A>C	XP_011533945.1:p.Ile8398Leu
XM_011535644.1:c.23632A>C	XP_011533946.1:p.Ile7878Leu
XM_011535645.1:c.23125A>C	XP_011533947.1:p.Ile7709Leu
XM_011535647.1:c.18592A>C	XP_011533949.1:p.Ile6198Leu
NM_001347701.1:c.1858A>C	NP_001334630.1:p.Ile620Leu
NM_001347702.1:c.1786A>C	NP_001334631.1:p.Ile596Leu
XM_006715408.2:c.25345A>C	XP_006715471.1:p.Ile8449Leu
XM_006715410.2:c.25357A>C	XP_006715473.1:p.Ile8453Leu
XM_006715412.2:c.25342A>C	XP_006715475.1:p.Ile8448Leu
XM_006715413.2:c.25288A>C	XP_006715476.1:p.Ile8430Leu
XM_006715415.2:c.25288A>C	XP_006715478.1:p.Ile8430Leu
XM_006715416.2:c.25273A>C	XP_006715479.1:p.Ile8425Leu
XM_006715417.2:c.25216A>C	XP_006715480.1:p.Ile8406Leu
XM_006715420.2:c.25204A>C	XP_006715483.1:p.Ile8402Leu
XM_006715421.2:c.25201A>C	XP_006715484.1:p.Ile8401Leu
XM_006715423.2:c.25357A>C	XP_006715486.1:p.Ile8453Leu
XM_006715424.2:c.25357A>C	XP_006715487.1:p.Ile8453Leu
XM_006715425.2:c.25288A>C	XP_006715488.1:p.Ile8430Leu
XM_011535641.2:c.25354A>C	XP_011533943.1:p.Ile8452Leu
XM_011535642.2:c.25342A>C	XP_011533944.1:p.Ile8448Leu
XM_011535645.2:c.23125A>C	XP_011533947.1:p.Ile7709Leu
XM_017010608.1:c.25357A>C	XP_016866097.1:p.Ile8453Leu
XM_017010609.1:c.25357A>C	XP_016866098.1:p.Ile8453Leu
XM_017010610.1:c.25336A>C	XP_016866099.1:p.Ile8446Leu
XM_017010611.2:c.25330A>C	XP_016866100.1:p.Ile8444Leu
XM_017010612.1:c.25279A>C	XP_016866101.1:p.Ile8427Leu
XM_017010613.1:c.25285A>C	XP_016866102.1:p.Ile8429Leu
XM_017010614.1:c.25201A>C	XP_016866103.1:p.Ile8401Leu
XM_017010615.1:c.25132A>C	XP_016866104.1:p.Ile8378Leu
XM_017010616.1:c.25288A>C	XP_016866105.1:p.Ile8430Leu
XM_017010617.1:c.25285A>C	XP_016866106.1:p.Ile8429Leu
XM_017010618.1:c.25273A>C	XP_016866107.1:p.Ile8425Leu
XM_017010619.1:c.23632A>C	XP_016866108.1:p.Ile7878Leu
NM_182961.4:c.25252A>C MANE Select	NP_892006.3:p.Ile8418Leu
NM_001347701.2:c.1858A>C	NP_001334630.1:p.Ile620Leu
NM_001347702.2:c.1786A>C MANE Plus Clinical	NP_001334631.1:p.Ile596Leu
NM_033071.5:c.25108A>C	NP_149062.2:p.Ile8370Leu