Canonical Allele Identifier: CA155452

Identifiers and link-outs to other resources

ClinVar Variation Id: 130436
dbSNP Id: rs2295190

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152122609G>T , CM000668.2:g.152122609G>T GRCh38
NC_000006.11:g.152443744G>T , CM000668.1:g.152443744G>T GRCh37
NC_000006.10:g.152485437G>T NCBI36
NG_012855.1:g.519791C>A
NG_008493.2:g.470919G>T
NG_012855.2:g.519791C>A

Transcript Alleles

HGVS Amino-acid change
NM_033071.3:c.26077C>A (SYNE1) VV NP_149062.1:p.Leu8693Met
NM_182961.3:c.26221C>A (SYNE1) VV NP_892006.3:p.Leu8741Met
XM_006715407.1:c.26368C>A (SYNE1) XP_006715470.1:p.Leu8790Met
XM_006715408.1:c.26356C>A (SYNE1) XP_006715471.1:p.Leu8786Met
XM_006715409.1:c.26347C>A (SYNE1) XP_006715472.1:p.Leu8783Met
XM_006715410.1:c.26326C>A (SYNE1) XP_006715473.1:p.Leu8776Met
XM_006715411.1:c.26317C>A (SYNE1) XP_006715474.1:p.Leu8773Met
XM_006715412.1:c.26311C>A (SYNE1) XP_006715475.1:p.Leu8771Met
XM_006715413.1:c.26299C>A (SYNE1) XP_006715476.1:p.Leu8767Met
XM_006715414.1:c.26296C>A (SYNE1) XP_006715477.1:p.Leu8766Met
XM_006715415.1:c.26257C>A (SYNE1) XP_006715478.1:p.Leu8753Met
XM_006715416.1:c.26242C>A (SYNE1) XP_006715479.1:p.Leu8748Met
XM_006715417.1:c.26227C>A (SYNE1) XP_006715480.1:p.Leu8743Met
XM_006715420.1:c.26215C>A (SYNE1) XP_006715483.1:p.Leu8739Met
XM_006715421.1:c.26212C>A (SYNE1) XP_006715484.1:p.Leu8738Met
XM_006715422.1:c.26209C>A (SYNE1) XP_006715485.1:p.Leu8737Met
XM_006715423.1:c.*32C>A (SYNE1) XP_006715486.1:p.=
XM_006715424.1:c.*32C>A (SYNE1) XP_006715487.1:p.=
XM_006715425.1:c.*32C>A (SYNE1) XP_006715488.1:p.=
XM_011535641.1:c.26365C>A (SYNE1) XP_011533943.1:p.Leu8789Met
XM_011535642.1:c.26353C>A (SYNE1) XP_011533944.1:p.Leu8785Met
XM_011535643.1:c.26203C>A (SYNE1) XP_011533945.1:p.Leu8735Met
XM_011535644.1:c.24643C>A (SYNE1) XP_011533946.1:p.Leu8215Met
XM_011535645.1:c.24136C>A (SYNE1) XP_011533947.1:p.Leu8046Met
XM_011535647.1:n.19603C>A (SYNE1) XP_011533949.1:p.Leu6535Met
NM_001328100.1:c.851-2657G>T (ESR1) VV NP_001315029.1:p.=
NM_001347701.1:c.*32C>A (SYNE1) VV NP_001334630.1:p.=
NM_001347702.1:c.2755C>A (SYNE1) VV NP_001334631.1:p.Leu919Met
XM_006715408.2:c.26356C>A (SYNE1) XP_006715471.1:p.Leu8786Met
XM_006715410.2:c.26326C>A (SYNE1) XP_006715473.1:p.Leu8776Met
XM_006715412.2:c.26311C>A (SYNE1) XP_006715475.1:p.Leu8771Met
XM_006715413.2:c.26299C>A (SYNE1) XP_006715476.1:p.Leu8767Met
XM_006715415.2:c.26257C>A (SYNE1) XP_006715478.1:p.Leu8753Met
XM_006715416.2:c.26242C>A (SYNE1) XP_006715479.1:p.Leu8748Met
XM_006715417.2:c.26227C>A (SYNE1) XP_006715480.1:p.Leu8743Met
XM_006715420.2:c.26215C>A (SYNE1) XP_006715483.1:p.Leu8739Met
XM_006715421.2:c.26212C>A (SYNE1) XP_006715484.1:p.Leu8738Met
XM_006715423.2:c.*32C>A (SYNE1) XP_006715486.1:p.=
XM_006715424.2:c.*32C>A (SYNE1) XP_006715487.1:p.=
XM_006715425.2:c.*32C>A (SYNE1) XP_006715488.1:p.=
XM_011535641.2:c.26365C>A (SYNE1) XP_011533943.1:p.Leu8789Met
XM_011535642.2:c.26353C>A (SYNE1) XP_011533944.1:p.Leu8785Met
XM_011535645.2:c.24136C>A (SYNE1) XP_011533947.1:p.Leu8046Met
XM_017010608.1:c.26368C>A (SYNE1) XP_016866097.1:p.Leu8790Met
XM_017010609.1:c.26368C>A (SYNE1) XP_016866098.1:p.Leu8790Met
XM_017010610.1:c.26347C>A (SYNE1) XP_016866099.1:p.Leu8783Met
XM_017010611.2:c.26341C>A (SYNE1) XP_016866100.1:p.Leu8781Met
XM_017010612.1:c.26290C>A (SYNE1) XP_016866101.1:p.Leu8764Met
XM_017010613.1:c.26254C>A (SYNE1) XP_016866102.1:p.Leu8752Met
XM_017010614.1:c.26212C>A (SYNE1) XP_016866103.1:p.Leu8738Met
XM_017010615.1:c.26101C>A (SYNE1) XP_016866104.1:p.Leu8701Met
XM_017010616.1:c.*32C>A (SYNE1) XP_016866105.1:p.=
XM_017010617.1:c.*32C>A (SYNE1) XP_016866106.1:p.=
XM_017010618.1:c.*32C>A (SYNE1) XP_016866107.1:p.=
XM_017010619.1:c.24643C>A (SYNE1) XP_016866108.1:p.Leu8215Met
NM_182961.4:c.26221C>A (SYNE1) VV NP_892006.3:p.Leu8741Met
ENST00000341594.9:c.25006C>A ENSP00000341887.6:p.Leu8336Met
ENST00000347037.9:n.2969C>A
ENST00000354674.4:c.2755C>A ENSP00000346701.4:p.Leu919Met
ENST00000367251.7:n.4997C>A ENSP00000356220.3:p.=
ENST00000367255.9:c.26221C>A ENSP00000356224.5:p.Leu8741Met
ENST00000367256.9:n.9913C>A
ENST00000367257.8:n.4100C>A ENSP00000356226.4:p.=
ENST00000409694.6:n.9805C>A
ENST00000423061.5:c.26077C>A ENSP00000396024.1:p.Leu8693Met
ENST00000427531.6:c.851-2657G>T ENSP00000394721.2:p.=
ENST00000460912.6:n.2835C>A
ENST00000478916.5:n.6858C>A
ENST00000536990.5:n.2999C>A
ENST00000539504.5:c.2686C>A ENSP00000441052.1:p.Leu896Met