Canonical Allele Identifier: CA452747120
Gene: SYNE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.152462423C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152141288C>A , CM000668.2:g.152141288C>A GRCh38
NC_000006.11:g.152462423C>A , CM000668.1:g.152462423C>A GRCh37
NC_000006.10:g.152504116C>A NCBI36
NG_012855.1:g.501112G>T
NG_012855.2:g.501112G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1695G>T MANE Plus Clinical ENSP00000346701.4:p.Val565=
ENST00000367255.10:c.25161G>T MANE Select ENSP00000356224.5:p.Val8387=
ENST00000423061.6:c.25017G>T ENSP00000396024.1:p.Val8339=
ENST00000672154.1:c.563G>T
ENST00000672169.1:c.896G>T
ENST00000673173.1:c.891-1127G>T
ENST00000673451.1:c.933G>T ENSP00000500189.1:p.Val311=
ENST00000341594.9:c.23946G>T ENSP00000341887.6:p.Val7982=
ENST00000347037.9:n.1909G>T
ENST00000354674.4:c.1695G>T ENSP00000346701.4:p.Val565=
ENST00000367251.7:c.3996G>T ENSP00000356220.3:p.Val1332=
ENST00000367255.9:c.25161G>T ENSP00000356224.5:p.Val8387=
ENST00000367256.9:n.8853G>T
ENST00000367257.8:c.3099G>T ENSP00000356226.4:p.Val1033=
ENST00000409694.6:n.8745G>T
ENST00000423061.5:c.25017G>T ENSP00000396024.1:p.Val8339=
ENST00000460912.6:n.1775G>T
ENST00000478916.5:n.4183G>T
ENST00000536990.5:n.1998G>T
ENST00000539504.5:c.1626G>T ENSP00000441052.1:p.Val542=
NM_033071.3:c.25017G>T NP_149062.1:p.Val8339=
NM_182961.3:c.25161G>T NP_892006.3:p.Val8387=
XM_006715407.1:c.25266G>T XP_006715470.1:p.Val8422=
XM_006715408.1:c.25254G>T XP_006715471.1:p.Val8418=
XM_006715409.1:c.25245G>T XP_006715472.1:p.Val8415=
XM_006715410.1:c.25266G>T XP_006715473.1:p.Val8422=
XM_006715411.1:c.25215G>T XP_006715474.1:p.Val8405=
XM_006715412.1:c.25251G>T XP_006715475.1:p.Val8417=
XM_006715413.1:c.25197G>T XP_006715476.1:p.Val8399=
XM_006715414.1:c.25194G>T XP_006715477.1:p.Val8398=
XM_006715415.1:c.25197G>T XP_006715478.1:p.Val8399=
XM_006715416.1:c.25182G>T XP_006715479.1:p.Val8394=
XM_006715417.1:c.25125G>T XP_006715480.1:p.Val8375=
XM_006715420.1:c.25113G>T XP_006715483.1:p.Val8371=
XM_006715421.1:c.25110G>T XP_006715484.1:p.Val8370=
XM_006715422.1:c.25107G>T XP_006715485.1:p.Val8369=
XM_006715423.1:c.25266G>T XP_006715486.1:p.Val8422=
XM_006715424.1:c.25266G>T XP_006715487.1:p.Val8422=
XM_006715425.1:c.25197G>T XP_006715488.1:p.Val8399=
XM_011535641.1:c.25263G>T XP_011533943.1:p.Val8421=
XM_011535642.1:c.25251G>T XP_011533944.1:p.Val8417=
XM_011535643.1:c.25101G>T XP_011533945.1:p.Val8367=
XM_011535644.1:c.23541G>T XP_011533946.1:p.Val7847=
XM_011535645.1:c.23034G>T XP_011533947.1:p.Val7678=
XM_011535647.1:c.18501G>T XP_011533949.1:p.Val6167=
NM_001347701.1:c.1767G>T NP_001334630.1:p.Val589=
NM_001347702.1:c.1695G>T NP_001334631.1:p.Val565=
XM_006715408.2:c.25254G>T XP_006715471.1:p.Val8418=
XM_006715410.2:c.25266G>T XP_006715473.1:p.Val8422=
XM_006715412.2:c.25251G>T XP_006715475.1:p.Val8417=
XM_006715413.2:c.25197G>T XP_006715476.1:p.Val8399=
XM_006715415.2:c.25197G>T XP_006715478.1:p.Val8399=
XM_006715416.2:c.25182G>T XP_006715479.1:p.Val8394=
XM_006715417.2:c.25125G>T XP_006715480.1:p.Val8375=
XM_006715420.2:c.25113G>T XP_006715483.1:p.Val8371=
XM_006715421.2:c.25110G>T XP_006715484.1:p.Val8370=
XM_006715423.2:c.25266G>T XP_006715486.1:p.Val8422=
XM_006715424.2:c.25266G>T XP_006715487.1:p.Val8422=
XM_006715425.2:c.25197G>T XP_006715488.1:p.Val8399=
XM_011535641.2:c.25263G>T XP_011533943.1:p.Val8421=
XM_011535642.2:c.25251G>T XP_011533944.1:p.Val8417=
XM_011535645.2:c.23034G>T XP_011533947.1:p.Val7678=
XM_017010608.1:c.25266G>T XP_016866097.1:p.Val8422=
XM_017010609.1:c.25266G>T XP_016866098.1:p.Val8422=
XM_017010610.1:c.25245G>T XP_016866099.1:p.Val8415=
XM_017010611.2:c.25239G>T XP_016866100.1:p.Val8413=
XM_017010612.1:c.25188G>T XP_016866101.1:p.Val8396=
XM_017010613.1:c.25194G>T XP_016866102.1:p.Val8398=
XM_017010614.1:c.25110G>T XP_016866103.1:p.Val8370=
XM_017010615.1:c.25041G>T XP_016866104.1:p.Val8347=
XM_017010616.1:c.25197G>T XP_016866105.1:p.Val8399=
XM_017010617.1:c.25194G>T XP_016866106.1:p.Val8398=
XM_017010618.1:c.25182G>T XP_016866107.1:p.Val8394=
XM_017010619.1:c.23541G>T XP_016866108.1:p.Val7847=
NM_182961.4:c.25161G>T MANE Select NP_892006.3:p.Val8387=
NM_001347701.2:c.1767G>T NP_001334630.1:p.Val589=
NM_001347702.2:c.1695G>T MANE Plus Clinical NP_001334631.1:p.Val565=
NM_033071.5:c.25017G>T NP_149062.2:p.Val8339=