Canonical Allele Identifier: CA452748323

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152473160A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152152025A>G , CM000668.2:g.152152025A>G	GRCh38
NC_000006.11:g.152473160A>G , CM000668.1:g.152473160A>G	GRCh37
NC_000006.10:g.152514853A>G	NCBI36
NG_012855.1:g.490375T>C
NG_012855.2:g.490375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.711T>C MANE Plus Clinical	ENSP00000346701.4:p.Val237=
ENST00000367255.10:c.24246T>C MANE Select	ENSP00000356224.5:p.Val8082=
ENST00000423061.6:c.24033T>C	ENSP00000396024.1:p.Val8011=
ENST00000673173.1:c.160T>C
ENST00000673451.1:c.18T>C	ENSP00000500189.1:p.Val6=
ENST00000341594.9:c.23031T>C	ENSP00000341887.6:p.Val7677=
ENST00000347037.9:n.925T>C
ENST00000354674.4:c.711T>C	ENSP00000346701.4:p.Val237=
ENST00000367251.7:c.3012T>C	ENSP00000356220.3:p.Val1004=
ENST00000367255.9:c.24246T>C	ENSP00000356224.5:p.Val8082=
ENST00000367256.9:n.7938T>C
ENST00000367257.8:c.2184T>C	ENSP00000356226.4:p.Val728=
ENST00000409694.6:n.7830T>C
ENST00000423061.5:c.24033T>C	ENSP00000396024.1:p.Val8011=
ENST00000460912.6:n.791T>C
ENST00000476519.1:n.308T>C
ENST00000536990.5:n.1083T>C
ENST00000539504.5:c.711T>C	ENSP00000441052.1:p.Val237=
NM_033071.3:c.24033T>C	NP_149062.1:p.Val8011=
NM_182961.3:c.24246T>C	NP_892006.3:p.Val8082=
XM_006715407.1:c.24282T>C	XP_006715470.1:p.Val8094=
XM_006715408.1:c.24270T>C	XP_006715471.1:p.Val8090=
XM_006715409.1:c.24261T>C	XP_006715472.1:p.Val8087=
XM_006715410.1:c.24282T>C	XP_006715473.1:p.Val8094=
XM_006715411.1:c.24231T>C	XP_006715474.1:p.Val8077=
XM_006715412.1:c.24267T>C	XP_006715475.1:p.Val8089=
XM_006715413.1:c.24282T>C	XP_006715476.1:p.Val8094=
XM_006715414.1:c.24210T>C	XP_006715477.1:p.Val8070=
XM_006715415.1:c.24282T>C	XP_006715478.1:p.Val8094=
XM_006715416.1:c.24267T>C	XP_006715479.1:p.Val8089=
XM_006715417.1:c.24141T>C	XP_006715480.1:p.Val8047=
XM_006715420.1:c.24129T>C	XP_006715483.1:p.Val8043=
XM_006715421.1:c.24126T>C	XP_006715484.1:p.Val8042=
XM_006715422.1:c.24123T>C	XP_006715485.1:p.Val8041=
XM_006715423.1:c.24282T>C	XP_006715486.1:p.Val8094=
XM_006715424.1:c.24282T>C	XP_006715487.1:p.Val8094=
XM_006715425.1:c.24282T>C	XP_006715488.1:p.Val8094=
XM_011535641.1:c.24279T>C	XP_011533943.1:p.Val8093=
XM_011535642.1:c.24267T>C	XP_011533944.1:p.Val8089=
XM_011535643.1:c.24117T>C	XP_011533945.1:p.Val8039=
XM_011535644.1:c.22557T>C	XP_011533946.1:p.Val7519=
XM_011535645.1:c.22050T>C	XP_011533947.1:p.Val7350=
XM_011535647.1:c.17517T>C	XP_011533949.1:p.Val5839=
NM_001347701.1:c.852T>C	NP_001334630.1:p.Val284=
NM_001347702.1:c.711T>C	NP_001334631.1:p.Val237=
XM_006715408.2:c.24270T>C	XP_006715471.1:p.Val8090=
XM_006715410.2:c.24282T>C	XP_006715473.1:p.Val8094=
XM_006715412.2:c.24267T>C	XP_006715475.1:p.Val8089=
XM_006715413.2:c.24282T>C	XP_006715476.1:p.Val8094=
XM_006715415.2:c.24282T>C	XP_006715478.1:p.Val8094=
XM_006715416.2:c.24267T>C	XP_006715479.1:p.Val8089=
XM_006715417.2:c.24141T>C	XP_006715480.1:p.Val8047=
XM_006715420.2:c.24129T>C	XP_006715483.1:p.Val8043=
XM_006715421.2:c.24126T>C	XP_006715484.1:p.Val8042=
XM_006715423.2:c.24282T>C	XP_006715486.1:p.Val8094=
XM_006715424.2:c.24282T>C	XP_006715487.1:p.Val8094=
XM_006715425.2:c.24282T>C	XP_006715488.1:p.Val8094=
XM_011535641.2:c.24279T>C	XP_011533943.1:p.Val8093=
XM_011535642.2:c.24267T>C	XP_011533944.1:p.Val8089=
XM_011535645.2:c.22050T>C	XP_011533947.1:p.Val7350=
XM_017010608.1:c.24282T>C	XP_016866097.1:p.Val8094=
XM_017010609.1:c.24282T>C	XP_016866098.1:p.Val8094=
XM_017010610.1:c.24261T>C	XP_016866099.1:p.Val8087=
XM_017010611.2:c.24255T>C	XP_016866100.1:p.Val8085=
XM_017010612.1:c.24204T>C	XP_016866101.1:p.Val8068=
XM_017010613.1:c.24279T>C	XP_016866102.1:p.Val8093=
XM_017010614.1:c.24126T>C	XP_016866103.1:p.Val8042=
XM_017010615.1:c.24126T>C	XP_016866104.1:p.Val8042=
XM_017010616.1:c.24282T>C	XP_016866105.1:p.Val8094=
XM_017010617.1:c.24279T>C	XP_016866106.1:p.Val8093=
XM_017010618.1:c.24267T>C	XP_016866107.1:p.Val8089=
XM_017010619.1:c.22557T>C	XP_016866108.1:p.Val7519=
NM_182961.4:c.24246T>C MANE Select	NP_892006.3:p.Val8082=
NM_001347701.2:c.852T>C	NP_001334630.1:p.Val284=
NM_001347702.2:c.711T>C MANE Plus Clinical	NP_001334631.1:p.Val237=
NM_033071.5:c.24033T>C	NP_149062.2:p.Val8011=