Canonical Allele Identifier: CA366083287

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464875C>G (hg19) ; chr6:g.152143740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143740C>G , CM000668.2:g.152143740C>G	GRCh38
NC_000006.11:g.152464875C>G , CM000668.1:g.152464875C>G	GRCh37
NC_000006.10:g.152506568C>G	NCBI36
NG_012855.1:g.498660G>C
NG_012855.2:g.498660G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1536G>C MANE Plus Clinical	ENSP00000346701.4:p.Gln512His
ENST00000367255.10:c.25002G>C MANE Select	ENSP00000356224.5:p.Gln8334His
ENST00000423061.6:c.24858G>C	ENSP00000396024.1:p.Gln8286His
ENST00000672154.1:c.404G>C
ENST00000672169.1:c.737G>C
ENST00000673173.1:c.891-3579G>C
ENST00000673451.1:c.774G>C	ENSP00000500189.1:p.Gln258His
ENST00000341594.9:c.23787G>C	ENSP00000341887.6:p.Gln7929His
ENST00000347037.9:n.1750G>C
ENST00000354674.4:c.1536G>C	ENSP00000346701.4:p.Gln512His
ENST00000367251.7:c.3837G>C	ENSP00000356220.3:p.Gln1279His
ENST00000367255.9:c.25002G>C	ENSP00000356224.5:p.Gln8334His
ENST00000367256.9:n.8694G>C
ENST00000367257.8:c.2940G>C	ENSP00000356226.4:p.Gln980His
ENST00000409694.6:n.8586G>C
ENST00000423061.5:c.24858G>C	ENSP00000396024.1:p.Gln8286His
ENST00000460912.6:n.1616G>C
ENST00000478916.5:n.4024G>C
ENST00000536990.5:n.1839G>C
ENST00000539504.5:c.1467G>C	ENSP00000441052.1:p.Gln489His
NM_033071.3:c.24858G>C	NP_149062.1:p.Gln8286His
NM_182961.3:c.25002G>C	NP_892006.3:p.Gln8334His
XM_006715407.1:c.25107G>C	XP_006715470.1:p.Gln8369His
XM_006715408.1:c.25095G>C	XP_006715471.1:p.Gln8365His
XM_006715409.1:c.25086G>C	XP_006715472.1:p.Gln8362His
XM_006715410.1:c.25107G>C	XP_006715473.1:p.Gln8369His
XM_006715411.1:c.25056G>C	XP_006715474.1:p.Gln8352His
XM_006715412.1:c.25092G>C	XP_006715475.1:p.Gln8364His
XM_006715413.1:c.25038G>C	XP_006715476.1:p.Gln8346His
XM_006715414.1:c.25035G>C	XP_006715477.1:p.Gln8345His
XM_006715415.1:c.25038G>C	XP_006715478.1:p.Gln8346His
XM_006715416.1:c.25023G>C	XP_006715479.1:p.Gln8341His
XM_006715417.1:c.24966G>C	XP_006715480.1:p.Gln8322His
XM_006715420.1:c.24954G>C	XP_006715483.1:p.Gln8318His
XM_006715421.1:c.24951G>C	XP_006715484.1:p.Gln8317His
XM_006715422.1:c.24948G>C	XP_006715485.1:p.Gln8316His
XM_006715423.1:c.25107G>C	XP_006715486.1:p.Gln8369His
XM_006715424.1:c.25107G>C	XP_006715487.1:p.Gln8369His
XM_006715425.1:c.25038G>C	XP_006715488.1:p.Gln8346His
XM_011535641.1:c.25104G>C	XP_011533943.1:p.Gln8368His
XM_011535642.1:c.25092G>C	XP_011533944.1:p.Gln8364His
XM_011535643.1:c.24942G>C	XP_011533945.1:p.Gln8314His
XM_011535644.1:c.23382G>C	XP_011533946.1:p.Gln7794His
XM_011535645.1:c.22875G>C	XP_011533947.1:p.Gln7625His
XM_011535647.1:c.18342G>C	XP_011533949.1:p.Gln6114His
NM_001347701.1:c.1608G>C	NP_001334630.1:p.Gln536His
NM_001347702.1:c.1536G>C	NP_001334631.1:p.Gln512His
XM_006715408.2:c.25095G>C	XP_006715471.1:p.Gln8365His
XM_006715410.2:c.25107G>C	XP_006715473.1:p.Gln8369His
XM_006715412.2:c.25092G>C	XP_006715475.1:p.Gln8364His
XM_006715413.2:c.25038G>C	XP_006715476.1:p.Gln8346His
XM_006715415.2:c.25038G>C	XP_006715478.1:p.Gln8346His
XM_006715416.2:c.25023G>C	XP_006715479.1:p.Gln8341His
XM_006715417.2:c.24966G>C	XP_006715480.1:p.Gln8322His
XM_006715420.2:c.24954G>C	XP_006715483.1:p.Gln8318His
XM_006715421.2:c.24951G>C	XP_006715484.1:p.Gln8317His
XM_006715423.2:c.25107G>C	XP_006715486.1:p.Gln8369His
XM_006715424.2:c.25107G>C	XP_006715487.1:p.Gln8369His
XM_006715425.2:c.25038G>C	XP_006715488.1:p.Gln8346His
XM_011535641.2:c.25104G>C	XP_011533943.1:p.Gln8368His
XM_011535642.2:c.25092G>C	XP_011533944.1:p.Gln8364His
XM_011535645.2:c.22875G>C	XP_011533947.1:p.Gln7625His
XM_017010608.1:c.25107G>C	XP_016866097.1:p.Gln8369His
XM_017010609.1:c.25107G>C	XP_016866098.1:p.Gln8369His
XM_017010610.1:c.25086G>C	XP_016866099.1:p.Gln8362His
XM_017010611.2:c.25080G>C	XP_016866100.1:p.Gln8360His
XM_017010612.1:c.25029G>C	XP_016866101.1:p.Gln8343His
XM_017010613.1:c.25035G>C	XP_016866102.1:p.Gln8345His
XM_017010614.1:c.24951G>C	XP_016866103.1:p.Gln8317His
XM_017010615.1:c.24882G>C	XP_016866104.1:p.Gln8294His
XM_017010616.1:c.25038G>C	XP_016866105.1:p.Gln8346His
XM_017010617.1:c.25035G>C	XP_016866106.1:p.Gln8345His
XM_017010618.1:c.25023G>C	XP_016866107.1:p.Gln8341His
XM_017010619.1:c.23382G>C	XP_016866108.1:p.Gln7794His
NM_182961.4:c.25002G>C MANE Select	NP_892006.3:p.Gln8334His
NM_001347701.2:c.1608G>C	NP_001334630.1:p.Gln536His
NM_001347702.2:c.1536G>C MANE Plus Clinical	NP_001334631.1:p.Gln512His
NM_033071.5:c.24858G>C	NP_149062.2:p.Gln8286His