Canonical Allele Identifier: CA366080324

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461183C>G (hg19) ; chr6:g.152140048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140048C>G , CM000668.2:g.152140048C>G	GRCh38
NC_000006.11:g.152461183C>G , CM000668.1:g.152461183C>G	GRCh37
NC_000006.10:g.152502876C>G	NCBI36
NG_012855.1:g.502352G>C
NG_012855.2:g.502352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1894G>C MANE Plus Clinical	ENSP00000346701.4:p.Ala632Pro
ENST00000367255.10:c.25360G>C MANE Select	ENSP00000356224.5:p.Ala8454Pro
ENST00000423061.6:c.25216G>C	ENSP00000396024.1:p.Ala8406Pro
ENST00000672154.1:c.762G>C
ENST00000672169.1:c.1095G>C
ENST00000673173.1:c.1004G>C
ENST00000673451.1:c.1132G>C	ENSP00000500189.1:p.Ala378Pro
ENST00000341594.9:c.24145G>C	ENSP00000341887.6:p.Ala8049Pro
ENST00000347037.9:n.2108G>C
ENST00000354674.4:c.1894G>C	ENSP00000346701.4:p.Ala632Pro
ENST00000367251.7:c.4195G>C	ENSP00000356220.3:p.Ala1399Pro
ENST00000367255.9:c.25360G>C	ENSP00000356224.5:p.Ala8454Pro
ENST00000367256.9:n.9052G>C
ENST00000367257.8:c.3298G>C	ENSP00000356226.4:p.Ala1100Pro
ENST00000409694.6:n.8944G>C
ENST00000423061.5:c.25216G>C	ENSP00000396024.1:p.Ala8406Pro
ENST00000460912.6:n.1974G>C
ENST00000478916.5:n.4382G>C
ENST00000536990.5:n.2197G>C
ENST00000539504.5:c.1825G>C	ENSP00000441052.1:p.Ala609Pro
NM_033071.3:c.25216G>C	NP_149062.1:p.Ala8406Pro
NM_182961.3:c.25360G>C	NP_892006.3:p.Ala8454Pro
XM_006715407.1:c.25465G>C	XP_006715470.1:p.Ala8489Pro
XM_006715408.1:c.25453G>C	XP_006715471.1:p.Ala8485Pro
XM_006715409.1:c.25444G>C	XP_006715472.1:p.Ala8482Pro
XM_006715410.1:c.25465G>C	XP_006715473.1:p.Ala8489Pro
XM_006715411.1:c.25414G>C	XP_006715474.1:p.Ala8472Pro
XM_006715412.1:c.25450G>C	XP_006715475.1:p.Ala8484Pro
XM_006715413.1:c.25396G>C	XP_006715476.1:p.Ala8466Pro
XM_006715414.1:c.25393G>C	XP_006715477.1:p.Ala8465Pro
XM_006715415.1:c.25396G>C	XP_006715478.1:p.Ala8466Pro
XM_006715416.1:c.25381G>C	XP_006715479.1:p.Ala8461Pro
XM_006715417.1:c.25324G>C	XP_006715480.1:p.Ala8442Pro
XM_006715420.1:c.25312G>C	XP_006715483.1:p.Ala8438Pro
XM_006715421.1:c.25309G>C	XP_006715484.1:p.Ala8437Pro
XM_006715422.1:c.25306G>C	XP_006715485.1:p.Ala8436Pro
XM_006715423.1:c.25465G>C	XP_006715486.1:p.Ala8489Pro
XM_006715424.1:c.25465G>C	XP_006715487.1:p.Ala8489Pro
XM_006715425.1:c.25396G>C	XP_006715488.1:p.Ala8466Pro
XM_011535641.1:c.25462G>C	XP_011533943.1:p.Ala8488Pro
XM_011535642.1:c.25450G>C	XP_011533944.1:p.Ala8484Pro
XM_011535643.1:c.25300G>C	XP_011533945.1:p.Ala8434Pro
XM_011535644.1:c.23740G>C	XP_011533946.1:p.Ala7914Pro
XM_011535645.1:c.23233G>C	XP_011533947.1:p.Ala7745Pro
XM_011535647.1:c.18700G>C	XP_011533949.1:p.Ala6234Pro
NM_001347701.1:c.1966G>C	NP_001334630.1:p.Ala656Pro
NM_001347702.1:c.1894G>C	NP_001334631.1:p.Ala632Pro
XM_006715408.2:c.25453G>C	XP_006715471.1:p.Ala8485Pro
XM_006715410.2:c.25465G>C	XP_006715473.1:p.Ala8489Pro
XM_006715412.2:c.25450G>C	XP_006715475.1:p.Ala8484Pro
XM_006715413.2:c.25396G>C	XP_006715476.1:p.Ala8466Pro
XM_006715415.2:c.25396G>C	XP_006715478.1:p.Ala8466Pro
XM_006715416.2:c.25381G>C	XP_006715479.1:p.Ala8461Pro
XM_006715417.2:c.25324G>C	XP_006715480.1:p.Ala8442Pro
XM_006715420.2:c.25312G>C	XP_006715483.1:p.Ala8438Pro
XM_006715421.2:c.25309G>C	XP_006715484.1:p.Ala8437Pro
XM_006715423.2:c.25465G>C	XP_006715486.1:p.Ala8489Pro
XM_006715424.2:c.25465G>C	XP_006715487.1:p.Ala8489Pro
XM_006715425.2:c.25396G>C	XP_006715488.1:p.Ala8466Pro
XM_011535641.2:c.25462G>C	XP_011533943.1:p.Ala8488Pro
XM_011535642.2:c.25450G>C	XP_011533944.1:p.Ala8484Pro
XM_011535645.2:c.23233G>C	XP_011533947.1:p.Ala7745Pro
XM_017010608.1:c.25465G>C	XP_016866097.1:p.Ala8489Pro
XM_017010609.1:c.25465G>C	XP_016866098.1:p.Ala8489Pro
XM_017010610.1:c.25444G>C	XP_016866099.1:p.Ala8482Pro
XM_017010611.2:c.25438G>C	XP_016866100.1:p.Ala8480Pro
XM_017010612.1:c.25387G>C	XP_016866101.1:p.Ala8463Pro
XM_017010613.1:c.25393G>C	XP_016866102.1:p.Ala8465Pro
XM_017010614.1:c.25309G>C	XP_016866103.1:p.Ala8437Pro
XM_017010615.1:c.25240G>C	XP_016866104.1:p.Ala8414Pro
XM_017010616.1:c.25396G>C	XP_016866105.1:p.Ala8466Pro
XM_017010617.1:c.25393G>C	XP_016866106.1:p.Ala8465Pro
XM_017010618.1:c.25381G>C	XP_016866107.1:p.Ala8461Pro
XM_017010619.1:c.23740G>C	XP_016866108.1:p.Ala7914Pro
NM_182961.4:c.25360G>C MANE Select	NP_892006.3:p.Ala8454Pro
NM_001347701.2:c.1966G>C	NP_001334630.1:p.Ala656Pro
NM_001347702.2:c.1894G>C MANE Plus Clinical	NP_001334631.1:p.Ala632Pro
NM_033071.5:c.25216G>C	NP_149062.2:p.Ala8406Pro