Canonical Allele Identifier: CA366089082

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000354674.5:c.2755C>G (SYNE1) MANE Plus Clinical ENSP00000346701.4:p.Leu919Val
ENST00000367255.10:c.26221C>G (SYNE1) MANE Select ENSP00000356224.5:p.Leu8741Val
ENST00000423061.6:c.26077C>G (SYNE1) ENSP00000396024.1:p.Leu8693Val
ENST00000672154.1:c.1564C>G (SYNE1)
ENST00000672169.1:c.1939C>G (SYNE1)
ENST00000673173.1:c.1806C>G (SYNE1)
ENST00000673451.1:c.2071C>G (SYNE1) ENSP00000500189.1:n.2071C>G
ENST00000341594.9:c.25006C>G (SYNE1) ENSP00000341887.6:p.Leu8336Val
ENST00000347037.9:n.2969C>G (SYNE1)
ENST00000354674.4:c.2755C>G (SYNE1) ENSP00000346701.4:p.Leu919Val
ENST00000367251.7:c.4997C>G (SYNE1) ENSP00000356220.3:n.4997C>G
ENST00000367255.9:c.26221C>G (SYNE1) ENSP00000356224.5:p.Leu8741Val
ENST00000367256.9:n.9913C>G (SYNE1)
ENST00000367257.8:c.4100C>G (SYNE1) ENSP00000356226.4:n.4100C>G
ENST00000409694.6:n.9805C>G (SYNE1)
ENST00000423061.5:c.26077C>G (SYNE1) ENSP00000396024.1:p.Leu8693Val
ENST00000427531.6:c.851-2657G>C (ESR1) ENSP00000394721.2:n.851-2657G>C
ENST00000460912.6:n.2835C>G (SYNE1)
ENST00000478916.5:n.6858C>G (SYNE1)
ENST00000536990.5:n.2999C>G (SYNE1)
ENST00000539504.5:c.2686C>G (SYNE1) ENSP00000441052.1:p.Leu896Val
NM_033071.3:c.26077C>G (SYNE1) NP_149062.1:p.Leu8693Val
NM_182961.3:c.26221C>G (SYNE1) NP_892006.3:p.Leu8741Val
XM_006715407.1:c.26368C>G (SYNE1) XP_006715470.1:p.Leu8790Val
XM_006715408.1:c.26356C>G (SYNE1) XP_006715471.1:p.Leu8786Val
XM_006715409.1:c.26347C>G (SYNE1) XP_006715472.1:p.Leu8783Val
XM_006715410.1:c.26326C>G (SYNE1) XP_006715473.1:p.Leu8776Val
XM_006715411.1:c.26317C>G (SYNE1) XP_006715474.1:p.Leu8773Val
XM_006715412.1:c.26311C>G (SYNE1) XP_006715475.1:p.Leu8771Val
XM_006715413.1:c.26299C>G (SYNE1) XP_006715476.1:p.Leu8767Val
XM_006715414.1:c.26296C>G (SYNE1) XP_006715477.1:p.Leu8766Val
XM_006715415.1:c.26257C>G (SYNE1) XP_006715478.1:p.Leu8753Val
XM_006715416.1:c.26242C>G (SYNE1) XP_006715479.1:p.Leu8748Val
XM_006715417.1:c.26227C>G (SYNE1) XP_006715480.1:p.Leu8743Val
XM_006715420.1:c.26215C>G (SYNE1) XP_006715483.1:p.Leu8739Val
XM_006715421.1:c.26212C>G (SYNE1) XP_006715484.1:p.Leu8738Val
XM_006715422.1:c.26209C>G (SYNE1) XP_006715485.1:p.Leu8737Val
XM_006715423.1:c.*32C>G (SYNE1) XP_006715486.1:n.*32C>G
XM_006715424.1:c.*32C>G (SYNE1) XP_006715487.1:n.*32C>G
XM_006715425.1:c.*32C>G (SYNE1) XP_006715488.1:n.*32C>G
XM_011535641.1:c.26365C>G (SYNE1) XP_011533943.1:p.Leu8789Val
XM_011535642.1:c.26353C>G (SYNE1) XP_011533944.1:p.Leu8785Val
XM_011535643.1:c.26203C>G (SYNE1) XP_011533945.1:p.Leu8735Val
XM_011535644.1:c.24643C>G (SYNE1) XP_011533946.1:p.Leu8215Val
XM_011535645.1:c.24136C>G (SYNE1) XP_011533947.1:p.Leu8046Val
XM_011535647.1:c.19603C>G (SYNE1) XP_011533949.1:p.Leu6535Val
NM_001328100.1:c.851-2657G>C (ESR1) NP_001315029.1:n.851-2657G>C
NM_001347701.1:c.*32C>G (SYNE1) NP_001334630.1:n.*32C>G
NM_001347702.1:c.2755C>G (SYNE1) NP_001334631.1:p.Leu919Val
XM_006715408.2:c.26356C>G (SYNE1) XP_006715471.1:p.Leu8786Val
XM_006715410.2:c.26326C>G (SYNE1) XP_006715473.1:p.Leu8776Val
XM_006715412.2:c.26311C>G (SYNE1) XP_006715475.1:p.Leu8771Val
XM_006715413.2:c.26299C>G (SYNE1) XP_006715476.1:p.Leu8767Val
XM_006715415.2:c.26257C>G (SYNE1) XP_006715478.1:p.Leu8753Val
XM_006715416.2:c.26242C>G (SYNE1) XP_006715479.1:p.Leu8748Val
XM_006715417.2:c.26227C>G (SYNE1) XP_006715480.1:p.Leu8743Val
XM_006715420.2:c.26215C>G (SYNE1) XP_006715483.1:p.Leu8739Val
XM_006715421.2:c.26212C>G (SYNE1) XP_006715484.1:p.Leu8738Val
XM_006715423.2:c.*32C>G (SYNE1) XP_006715486.1:n.*32C>G
XM_006715424.2:c.*32C>G (SYNE1) XP_006715487.1:n.*32C>G
XM_006715425.2:c.*32C>G (SYNE1) XP_006715488.1:n.*32C>G
XM_011535641.2:c.26365C>G (SYNE1) XP_011533943.1:p.Leu8789Val
XM_011535642.2:c.26353C>G (SYNE1) XP_011533944.1:p.Leu8785Val
XM_011535645.2:c.24136C>G (SYNE1) XP_011533947.1:p.Leu8046Val
XM_017010608.1:c.26368C>G (SYNE1) XP_016866097.1:p.Leu8790Val
XM_017010609.1:c.26368C>G (SYNE1) XP_016866098.1:p.Leu8790Val
XM_017010610.1:c.26347C>G (SYNE1) XP_016866099.1:p.Leu8783Val
XM_017010611.2:c.26341C>G (SYNE1) XP_016866100.1:p.Leu8781Val
XM_017010612.1:c.26290C>G (SYNE1) XP_016866101.1:p.Leu8764Val
XM_017010613.1:c.26254C>G (SYNE1) XP_016866102.1:p.Leu8752Val
XM_017010614.1:c.26212C>G (SYNE1) XP_016866103.1:p.Leu8738Val
XM_017010615.1:c.26101C>G (SYNE1) XP_016866104.1:p.Leu8701Val
XM_017010616.1:c.*32C>G (SYNE1) XP_016866105.1:n.*32C>G
XM_017010617.1:c.*32C>G (SYNE1) XP_016866106.1:n.*32C>G
XM_017010618.1:c.*32C>G (SYNE1) XP_016866107.1:n.*32C>G
XM_017010619.1:c.24643C>G (SYNE1) XP_016866108.1:p.Leu8215Val
NM_182961.4:c.26221C>G (SYNE1) MANE Select NP_892006.3:p.Leu8741Val
NM_001328100.2:c.851-2657G>C (ESR1) NP_001315029.1:n.851-2657G>C
NM_001347701.2:c.*32C>G (SYNE1) NP_001334630.1:n.*32C>G
NM_001347702.2:c.2755C>G (SYNE1) MANE Plus Clinical NP_001334631.1:p.Leu919Val
NM_033071.5:c.26077C>G (SYNE1) NP_149062.2:p.Leu8693Val