Canonical Allele Identifier: CA150166690

Gene: SYNE1

Linked Data

• dbSNP Id: rs149359341
• gnomAD v4: 6-152141245-G-A
• MyVariant Identifiers: chr6:g.152462380G>A (hg19) ; chr6:g.152141245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141245G>A , CM000668.2:g.152141245G>A	GRCh38
NC_000006.11:g.152462380G>A , CM000668.1:g.152462380G>A	GRCh37
NC_000006.10:g.152504073G>A	NCBI36
NG_012855.1:g.501155C>T
NG_012855.2:g.501155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1738C>T MANE Plus Clinical	ENSP00000346701.4:p.Pro580Ser
ENST00000367255.10:c.25204C>T MANE Select	ENSP00000356224.5:p.Pro8402Ser
ENST00000423061.6:c.25060C>T	ENSP00000396024.1:p.Pro8354Ser
ENST00000672154.1:c.606C>T
ENST00000672169.1:c.939C>T
ENST00000673173.1:c.891-1084C>T
ENST00000673451.1:c.976C>T	ENSP00000500189.1:p.Pro326Ser
ENST00000341594.9:c.23989C>T	ENSP00000341887.6:p.Pro7997Ser
ENST00000347037.9:n.1952C>T
ENST00000354674.4:c.1738C>T	ENSP00000346701.4:p.Pro580Ser
ENST00000367251.7:c.4039C>T	ENSP00000356220.3:p.Pro1347Ser
ENST00000367255.9:c.25204C>T	ENSP00000356224.5:p.Pro8402Ser
ENST00000367256.9:n.8896C>T
ENST00000367257.8:c.3142C>T	ENSP00000356226.4:p.Pro1048Ser
ENST00000409694.6:n.8788C>T
ENST00000423061.5:c.25060C>T	ENSP00000396024.1:p.Pro8354Ser
ENST00000460912.6:n.1818C>T
ENST00000478916.5:n.4226C>T
ENST00000536990.5:n.2041C>T
ENST00000539504.5:c.1669C>T	ENSP00000441052.1:p.Pro557Ser
NM_033071.3:c.25060C>T	NP_149062.1:p.Pro8354Ser
NM_182961.3:c.25204C>T	NP_892006.3:p.Pro8402Ser
XM_006715407.1:c.25309C>T	XP_006715470.1:p.Pro8437Ser
XM_006715408.1:c.25297C>T	XP_006715471.1:p.Pro8433Ser
XM_006715409.1:c.25288C>T	XP_006715472.1:p.Pro8430Ser
XM_006715410.1:c.25309C>T	XP_006715473.1:p.Pro8437Ser
XM_006715411.1:c.25258C>T	XP_006715474.1:p.Pro8420Ser
XM_006715412.1:c.25294C>T	XP_006715475.1:p.Pro8432Ser
XM_006715413.1:c.25240C>T	XP_006715476.1:p.Pro8414Ser
XM_006715414.1:c.25237C>T	XP_006715477.1:p.Pro8413Ser
XM_006715415.1:c.25240C>T	XP_006715478.1:p.Pro8414Ser
XM_006715416.1:c.25225C>T	XP_006715479.1:p.Pro8409Ser
XM_006715417.1:c.25168C>T	XP_006715480.1:p.Pro8390Ser
XM_006715420.1:c.25156C>T	XP_006715483.1:p.Pro8386Ser
XM_006715421.1:c.25153C>T	XP_006715484.1:p.Pro8385Ser
XM_006715422.1:c.25150C>T	XP_006715485.1:p.Pro8384Ser
XM_006715423.1:c.25309C>T	XP_006715486.1:p.Pro8437Ser
XM_006715424.1:c.25309C>T	XP_006715487.1:p.Pro8437Ser
XM_006715425.1:c.25240C>T	XP_006715488.1:p.Pro8414Ser
XM_011535641.1:c.25306C>T	XP_011533943.1:p.Pro8436Ser
XM_011535642.1:c.25294C>T	XP_011533944.1:p.Pro8432Ser
XM_011535643.1:c.25144C>T	XP_011533945.1:p.Pro8382Ser
XM_011535644.1:c.23584C>T	XP_011533946.1:p.Pro7862Ser
XM_011535645.1:c.23077C>T	XP_011533947.1:p.Pro7693Ser
XM_011535647.1:c.18544C>T	XP_011533949.1:p.Pro6182Ser
NM_001347701.1:c.1810C>T	NP_001334630.1:p.Pro604Ser
NM_001347702.1:c.1738C>T	NP_001334631.1:p.Pro580Ser
XM_006715408.2:c.25297C>T	XP_006715471.1:p.Pro8433Ser
XM_006715410.2:c.25309C>T	XP_006715473.1:p.Pro8437Ser
XM_006715412.2:c.25294C>T	XP_006715475.1:p.Pro8432Ser
XM_006715413.2:c.25240C>T	XP_006715476.1:p.Pro8414Ser
XM_006715415.2:c.25240C>T	XP_006715478.1:p.Pro8414Ser
XM_006715416.2:c.25225C>T	XP_006715479.1:p.Pro8409Ser
XM_006715417.2:c.25168C>T	XP_006715480.1:p.Pro8390Ser
XM_006715420.2:c.25156C>T	XP_006715483.1:p.Pro8386Ser
XM_006715421.2:c.25153C>T	XP_006715484.1:p.Pro8385Ser
XM_006715423.2:c.25309C>T	XP_006715486.1:p.Pro8437Ser
XM_006715424.2:c.25309C>T	XP_006715487.1:p.Pro8437Ser
XM_006715425.2:c.25240C>T	XP_006715488.1:p.Pro8414Ser
XM_011535641.2:c.25306C>T	XP_011533943.1:p.Pro8436Ser
XM_011535642.2:c.25294C>T	XP_011533944.1:p.Pro8432Ser
XM_011535645.2:c.23077C>T	XP_011533947.1:p.Pro7693Ser
XM_017010608.1:c.25309C>T	XP_016866097.1:p.Pro8437Ser
XM_017010609.1:c.25309C>T	XP_016866098.1:p.Pro8437Ser
XM_017010610.1:c.25288C>T	XP_016866099.1:p.Pro8430Ser
XM_017010611.2:c.25282C>T	XP_016866100.1:p.Pro8428Ser
XM_017010612.1:c.25231C>T	XP_016866101.1:p.Pro8411Ser
XM_017010613.1:c.25237C>T	XP_016866102.1:p.Pro8413Ser
XM_017010614.1:c.25153C>T	XP_016866103.1:p.Pro8385Ser
XM_017010615.1:c.25084C>T	XP_016866104.1:p.Pro8362Ser
XM_017010616.1:c.25240C>T	XP_016866105.1:p.Pro8414Ser
XM_017010617.1:c.25237C>T	XP_016866106.1:p.Pro8413Ser
XM_017010618.1:c.25225C>T	XP_016866107.1:p.Pro8409Ser
XM_017010619.1:c.23584C>T	XP_016866108.1:p.Pro7862Ser
NM_182961.4:c.25204C>T MANE Select	NP_892006.3:p.Pro8402Ser
NM_001347701.2:c.1810C>T	NP_001334630.1:p.Pro604Ser
NM_001347702.2:c.1738C>T MANE Plus Clinical	NP_001334631.1:p.Pro580Ser
NM_033071.5:c.25060C>T	NP_149062.2:p.Pro8354Ser