Canonical Allele Identifier: CA366083296

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152143742-G-T
• MyVariant Identifiers: chr6:g.152464877G>T (hg19) ; chr6:g.152143742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143742G>T , CM000668.2:g.152143742G>T	GRCh38
NC_000006.11:g.152464877G>T , CM000668.1:g.152464877G>T	GRCh37
NC_000006.10:g.152506570G>T	NCBI36
NG_012855.1:g.498658C>A
NG_012855.2:g.498658C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1534C>A MANE Plus Clinical	ENSP00000346701.4:p.Gln512Lys
ENST00000367255.10:c.25000C>A MANE Select	ENSP00000356224.5:p.Gln8334Lys
ENST00000423061.6:c.24856C>A	ENSP00000396024.1:p.Gln8286Lys
ENST00000672154.1:c.402C>A
ENST00000672169.1:c.735C>A
ENST00000673173.1:c.891-3581C>A
ENST00000673451.1:c.772C>A	ENSP00000500189.1:p.Gln258Lys
ENST00000341594.9:c.23785C>A	ENSP00000341887.6:p.Gln7929Lys
ENST00000347037.9:n.1748C>A
ENST00000354674.4:c.1534C>A	ENSP00000346701.4:p.Gln512Lys
ENST00000367251.7:c.3835C>A	ENSP00000356220.3:p.Gln1279Lys
ENST00000367255.9:c.25000C>A	ENSP00000356224.5:p.Gln8334Lys
ENST00000367256.9:n.8692C>A
ENST00000367257.8:c.2938C>A	ENSP00000356226.4:p.Gln980Lys
ENST00000409694.6:n.8584C>A
ENST00000423061.5:c.24856C>A	ENSP00000396024.1:p.Gln8286Lys
ENST00000460912.6:n.1614C>A
ENST00000478916.5:n.4022C>A
ENST00000536990.5:n.1837C>A
ENST00000539504.5:c.1465C>A	ENSP00000441052.1:p.Gln489Lys
NM_033071.3:c.24856C>A	NP_149062.1:p.Gln8286Lys
NM_182961.3:c.25000C>A	NP_892006.3:p.Gln8334Lys
XM_006715407.1:c.25105C>A	XP_006715470.1:p.Gln8369Lys
XM_006715408.1:c.25093C>A	XP_006715471.1:p.Gln8365Lys
XM_006715409.1:c.25084C>A	XP_006715472.1:p.Gln8362Lys
XM_006715410.1:c.25105C>A	XP_006715473.1:p.Gln8369Lys
XM_006715411.1:c.25054C>A	XP_006715474.1:p.Gln8352Lys
XM_006715412.1:c.25090C>A	XP_006715475.1:p.Gln8364Lys
XM_006715413.1:c.25036C>A	XP_006715476.1:p.Gln8346Lys
XM_006715414.1:c.25033C>A	XP_006715477.1:p.Gln8345Lys
XM_006715415.1:c.25036C>A	XP_006715478.1:p.Gln8346Lys
XM_006715416.1:c.25021C>A	XP_006715479.1:p.Gln8341Lys
XM_006715417.1:c.24964C>A	XP_006715480.1:p.Gln8322Lys
XM_006715420.1:c.24952C>A	XP_006715483.1:p.Gln8318Lys
XM_006715421.1:c.24949C>A	XP_006715484.1:p.Gln8317Lys
XM_006715422.1:c.24946C>A	XP_006715485.1:p.Gln8316Lys
XM_006715423.1:c.25105C>A	XP_006715486.1:p.Gln8369Lys
XM_006715424.1:c.25105C>A	XP_006715487.1:p.Gln8369Lys
XM_006715425.1:c.25036C>A	XP_006715488.1:p.Gln8346Lys
XM_011535641.1:c.25102C>A	XP_011533943.1:p.Gln8368Lys
XM_011535642.1:c.25090C>A	XP_011533944.1:p.Gln8364Lys
XM_011535643.1:c.24940C>A	XP_011533945.1:p.Gln8314Lys
XM_011535644.1:c.23380C>A	XP_011533946.1:p.Gln7794Lys
XM_011535645.1:c.22873C>A	XP_011533947.1:p.Gln7625Lys
XM_011535647.1:c.18340C>A	XP_011533949.1:p.Gln6114Lys
NM_001347701.1:c.1606C>A	NP_001334630.1:p.Gln536Lys
NM_001347702.1:c.1534C>A	NP_001334631.1:p.Gln512Lys
XM_006715408.2:c.25093C>A	XP_006715471.1:p.Gln8365Lys
XM_006715410.2:c.25105C>A	XP_006715473.1:p.Gln8369Lys
XM_006715412.2:c.25090C>A	XP_006715475.1:p.Gln8364Lys
XM_006715413.2:c.25036C>A	XP_006715476.1:p.Gln8346Lys
XM_006715415.2:c.25036C>A	XP_006715478.1:p.Gln8346Lys
XM_006715416.2:c.25021C>A	XP_006715479.1:p.Gln8341Lys
XM_006715417.2:c.24964C>A	XP_006715480.1:p.Gln8322Lys
XM_006715420.2:c.24952C>A	XP_006715483.1:p.Gln8318Lys
XM_006715421.2:c.24949C>A	XP_006715484.1:p.Gln8317Lys
XM_006715423.2:c.25105C>A	XP_006715486.1:p.Gln8369Lys
XM_006715424.2:c.25105C>A	XP_006715487.1:p.Gln8369Lys
XM_006715425.2:c.25036C>A	XP_006715488.1:p.Gln8346Lys
XM_011535641.2:c.25102C>A	XP_011533943.1:p.Gln8368Lys
XM_011535642.2:c.25090C>A	XP_011533944.1:p.Gln8364Lys
XM_011535645.2:c.22873C>A	XP_011533947.1:p.Gln7625Lys
XM_017010608.1:c.25105C>A	XP_016866097.1:p.Gln8369Lys
XM_017010609.1:c.25105C>A	XP_016866098.1:p.Gln8369Lys
XM_017010610.1:c.25084C>A	XP_016866099.1:p.Gln8362Lys
XM_017010611.2:c.25078C>A	XP_016866100.1:p.Gln8360Lys
XM_017010612.1:c.25027C>A	XP_016866101.1:p.Gln8343Lys
XM_017010613.1:c.25033C>A	XP_016866102.1:p.Gln8345Lys
XM_017010614.1:c.24949C>A	XP_016866103.1:p.Gln8317Lys
XM_017010615.1:c.24880C>A	XP_016866104.1:p.Gln8294Lys
XM_017010616.1:c.25036C>A	XP_016866105.1:p.Gln8346Lys
XM_017010617.1:c.25033C>A	XP_016866106.1:p.Gln8345Lys
XM_017010618.1:c.25021C>A	XP_016866107.1:p.Gln8341Lys
XM_017010619.1:c.23380C>A	XP_016866108.1:p.Gln7794Lys
NM_182961.4:c.25000C>A MANE Select	NP_892006.3:p.Gln8334Lys
NM_001347701.2:c.1606C>A	NP_001334630.1:p.Gln536Lys
NM_001347702.2:c.1534C>A MANE Plus Clinical	NP_001334631.1:p.Gln512Lys
NM_033071.5:c.24856C>A	NP_149062.2:p.Gln8286Lys