Canonical Allele Identifier: CA366079975

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461101T>A (hg19) ; chr6:g.152139966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139966T>A , CM000668.2:g.152139966T>A	GRCh38
NC_000006.11:g.152461101T>A , CM000668.1:g.152461101T>A	GRCh37
NC_000006.10:g.152502794T>A	NCBI36
NG_012855.1:g.502434A>T
NG_012855.2:g.502434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1976A>T MANE Plus Clinical	ENSP00000346701.4:p.Gln659Leu
ENST00000367255.10:c.25442A>T MANE Select	ENSP00000356224.5:p.Gln8481Leu
ENST00000423061.6:c.25298A>T	ENSP00000396024.1:p.Gln8433Leu
ENST00000672154.1:c.844A>T
ENST00000672169.1:c.1177A>T
ENST00000673173.1:c.1086A>T
ENST00000673451.1:c.1214A>T	ENSP00000500189.1:p.Gln405Leu
ENST00000341594.9:c.24227A>T	ENSP00000341887.6:p.Gln8076Leu
ENST00000347037.9:n.2190A>T
ENST00000354674.4:c.1976A>T	ENSP00000346701.4:p.Gln659Leu
ENST00000367251.7:c.4277A>T	ENSP00000356220.3:p.Gln1426Leu
ENST00000367255.9:c.25442A>T	ENSP00000356224.5:p.Gln8481Leu
ENST00000367256.9:n.9134A>T
ENST00000367257.8:c.3380A>T	ENSP00000356226.4:p.Gln1127Leu
ENST00000409694.6:n.9026A>T
ENST00000423061.5:c.25298A>T	ENSP00000396024.1:p.Gln8433Leu
ENST00000460912.6:n.2056A>T
ENST00000478916.5:n.4464A>T
ENST00000536990.5:n.2279A>T
ENST00000539504.5:c.1907A>T	ENSP00000441052.1:p.Gln636Leu
NM_033071.3:c.25298A>T	NP_149062.1:p.Gln8433Leu
NM_182961.3:c.25442A>T	NP_892006.3:p.Gln8481Leu
XM_006715407.1:c.25547A>T	XP_006715470.1:p.Gln8516Leu
XM_006715408.1:c.25535A>T	XP_006715471.1:p.Gln8512Leu
XM_006715409.1:c.25526A>T	XP_006715472.1:p.Gln8509Leu
XM_006715410.1:c.25547A>T	XP_006715473.1:p.Gln8516Leu
XM_006715411.1:c.25496A>T	XP_006715474.1:p.Gln8499Leu
XM_006715412.1:c.25532A>T	XP_006715475.1:p.Gln8511Leu
XM_006715413.1:c.25478A>T	XP_006715476.1:p.Gln8493Leu
XM_006715414.1:c.25475A>T	XP_006715477.1:p.Gln8492Leu
XM_006715415.1:c.25478A>T	XP_006715478.1:p.Gln8493Leu
XM_006715416.1:c.25463A>T	XP_006715479.1:p.Gln8488Leu
XM_006715417.1:c.25406A>T	XP_006715480.1:p.Gln8469Leu
XM_006715420.1:c.25394A>T	XP_006715483.1:p.Gln8465Leu
XM_006715421.1:c.25391A>T	XP_006715484.1:p.Gln8464Leu
XM_006715422.1:c.25388A>T	XP_006715485.1:p.Gln8463Leu
XM_006715423.1:c.25547A>T	XP_006715486.1:p.Gln8516Leu
XM_006715424.1:c.25547A>T	XP_006715487.1:p.Gln8516Leu
XM_006715425.1:c.25478A>T	XP_006715488.1:p.Gln8493Leu
XM_011535641.1:c.25544A>T	XP_011533943.1:p.Gln8515Leu
XM_011535642.1:c.25532A>T	XP_011533944.1:p.Gln8511Leu
XM_011535643.1:c.25382A>T	XP_011533945.1:p.Gln8461Leu
XM_011535644.1:c.23822A>T	XP_011533946.1:p.Gln7941Leu
XM_011535645.1:c.23315A>T	XP_011533947.1:p.Gln7772Leu
XM_011535647.1:c.18782A>T	XP_011533949.1:p.Gln6261Leu
NM_001347701.1:c.2048A>T	NP_001334630.1:p.Gln683Leu
NM_001347702.1:c.1976A>T	NP_001334631.1:p.Gln659Leu
XM_006715408.2:c.25535A>T	XP_006715471.1:p.Gln8512Leu
XM_006715410.2:c.25547A>T	XP_006715473.1:p.Gln8516Leu
XM_006715412.2:c.25532A>T	XP_006715475.1:p.Gln8511Leu
XM_006715413.2:c.25478A>T	XP_006715476.1:p.Gln8493Leu
XM_006715415.2:c.25478A>T	XP_006715478.1:p.Gln8493Leu
XM_006715416.2:c.25463A>T	XP_006715479.1:p.Gln8488Leu
XM_006715417.2:c.25406A>T	XP_006715480.1:p.Gln8469Leu
XM_006715420.2:c.25394A>T	XP_006715483.1:p.Gln8465Leu
XM_006715421.2:c.25391A>T	XP_006715484.1:p.Gln8464Leu
XM_006715423.2:c.25547A>T	XP_006715486.1:p.Gln8516Leu
XM_006715424.2:c.25547A>T	XP_006715487.1:p.Gln8516Leu
XM_006715425.2:c.25478A>T	XP_006715488.1:p.Gln8493Leu
XM_011535641.2:c.25544A>T	XP_011533943.1:p.Gln8515Leu
XM_011535642.2:c.25532A>T	XP_011533944.1:p.Gln8511Leu
XM_011535645.2:c.23315A>T	XP_011533947.1:p.Gln7772Leu
XM_017010608.1:c.25547A>T	XP_016866097.1:p.Gln8516Leu
XM_017010609.1:c.25547A>T	XP_016866098.1:p.Gln8516Leu
XM_017010610.1:c.25526A>T	XP_016866099.1:p.Gln8509Leu
XM_017010611.2:c.25520A>T	XP_016866100.1:p.Gln8507Leu
XM_017010612.1:c.25469A>T	XP_016866101.1:p.Gln8490Leu
XM_017010613.1:c.25475A>T	XP_016866102.1:p.Gln8492Leu
XM_017010614.1:c.25391A>T	XP_016866103.1:p.Gln8464Leu
XM_017010615.1:c.25322A>T	XP_016866104.1:p.Gln8441Leu
XM_017010616.1:c.25478A>T	XP_016866105.1:p.Gln8493Leu
XM_017010617.1:c.25475A>T	XP_016866106.1:p.Gln8492Leu
XM_017010618.1:c.25463A>T	XP_016866107.1:p.Gln8488Leu
XM_017010619.1:c.23822A>T	XP_016866108.1:p.Gln7941Leu
NM_182961.4:c.25442A>T MANE Select	NP_892006.3:p.Gln8481Leu
NM_001347701.2:c.2048A>T	NP_001334630.1:p.Gln683Leu
NM_001347702.2:c.1976A>T MANE Plus Clinical	NP_001334631.1:p.Gln659Leu
NM_033071.5:c.25298A>T	NP_149062.2:p.Gln8433Leu