Canonical Allele Identifier: CA366080674
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152140099G>C , CM000668.2:g.152140099G>C GRCh38
NC_000006.11:g.152461234G>C , CM000668.1:g.152461234G>C GRCh37
NC_000006.10:g.152502927G>C NCBI36
NG_012855.1:g.502301C>G
NG_012855.2:g.502301C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1843C>G MANE Plus Clinical ENSP00000346701.4:p.Gln615Glu
ENST00000367255.10:c.25309C>G MANE Select ENSP00000356224.5:p.Gln8437Glu
ENST00000423061.6:c.25165C>G ENSP00000396024.1:p.Gln8389Glu
ENST00000672154.1:c.711C>G
ENST00000672169.1:c.1044C>G
ENST00000673173.1:c.953C>G
ENST00000673451.1:c.1081C>G ENSP00000500189.1:p.Gln361Glu
ENST00000341594.9:c.24094C>G ENSP00000341887.6:p.Gln8032Glu
ENST00000347037.9:n.2057C>G
ENST00000354674.4:c.1843C>G ENSP00000346701.4:p.Gln615Glu
ENST00000367251.7:c.4144C>G ENSP00000356220.3:p.Gln1382Glu
ENST00000367255.9:c.25309C>G ENSP00000356224.5:p.Gln8437Glu
ENST00000367256.9:n.9001C>G
ENST00000367257.8:c.3247C>G ENSP00000356226.4:p.Gln1083Glu
ENST00000409694.6:n.8893C>G
ENST00000423061.5:c.25165C>G ENSP00000396024.1:p.Gln8389Glu
ENST00000460912.6:n.1923C>G
ENST00000478916.5:n.4331C>G
ENST00000536990.5:n.2146C>G
ENST00000539504.5:c.1774C>G ENSP00000441052.1:p.Gln592Glu
NM_033071.3:c.25165C>G NP_149062.1:p.Gln8389Glu
NM_182961.3:c.25309C>G NP_892006.3:p.Gln8437Glu
XM_006715407.1:c.25414C>G XP_006715470.1:p.Gln8472Glu
XM_006715408.1:c.25402C>G XP_006715471.1:p.Gln8468Glu
XM_006715409.1:c.25393C>G XP_006715472.1:p.Gln8465Glu
XM_006715410.1:c.25414C>G XP_006715473.1:p.Gln8472Glu
XM_006715411.1:c.25363C>G XP_006715474.1:p.Gln8455Glu
XM_006715412.1:c.25399C>G XP_006715475.1:p.Gln8467Glu
XM_006715413.1:c.25345C>G XP_006715476.1:p.Gln8449Glu
XM_006715414.1:c.25342C>G XP_006715477.1:p.Gln8448Glu
XM_006715415.1:c.25345C>G XP_006715478.1:p.Gln8449Glu
XM_006715416.1:c.25330C>G XP_006715479.1:p.Gln8444Glu
XM_006715417.1:c.25273C>G XP_006715480.1:p.Gln8425Glu
XM_006715420.1:c.25261C>G XP_006715483.1:p.Gln8421Glu
XM_006715421.1:c.25258C>G XP_006715484.1:p.Gln8420Glu
XM_006715422.1:c.25255C>G XP_006715485.1:p.Gln8419Glu
XM_006715423.1:c.25414C>G XP_006715486.1:p.Gln8472Glu
XM_006715424.1:c.25414C>G XP_006715487.1:p.Gln8472Glu
XM_006715425.1:c.25345C>G XP_006715488.1:p.Gln8449Glu
XM_011535641.1:c.25411C>G XP_011533943.1:p.Gln8471Glu
XM_011535642.1:c.25399C>G XP_011533944.1:p.Gln8467Glu
XM_011535643.1:c.25249C>G XP_011533945.1:p.Gln8417Glu
XM_011535644.1:c.23689C>G XP_011533946.1:p.Gln7897Glu
XM_011535645.1:c.23182C>G XP_011533947.1:p.Gln7728Glu
XM_011535647.1:c.18649C>G XP_011533949.1:p.Gln6217Glu
NM_001347701.1:c.1915C>G NP_001334630.1:p.Gln639Glu
NM_001347702.1:c.1843C>G NP_001334631.1:p.Gln615Glu
XM_006715408.2:c.25402C>G XP_006715471.1:p.Gln8468Glu
XM_006715410.2:c.25414C>G XP_006715473.1:p.Gln8472Glu
XM_006715412.2:c.25399C>G XP_006715475.1:p.Gln8467Glu
XM_006715413.2:c.25345C>G XP_006715476.1:p.Gln8449Glu
XM_006715415.2:c.25345C>G XP_006715478.1:p.Gln8449Glu
XM_006715416.2:c.25330C>G XP_006715479.1:p.Gln8444Glu
XM_006715417.2:c.25273C>G XP_006715480.1:p.Gln8425Glu
XM_006715420.2:c.25261C>G XP_006715483.1:p.Gln8421Glu
XM_006715421.2:c.25258C>G XP_006715484.1:p.Gln8420Glu
XM_006715423.2:c.25414C>G XP_006715486.1:p.Gln8472Glu
XM_006715424.2:c.25414C>G XP_006715487.1:p.Gln8472Glu
XM_006715425.2:c.25345C>G XP_006715488.1:p.Gln8449Glu
XM_011535641.2:c.25411C>G XP_011533943.1:p.Gln8471Glu
XM_011535642.2:c.25399C>G XP_011533944.1:p.Gln8467Glu
XM_011535645.2:c.23182C>G XP_011533947.1:p.Gln7728Glu
XM_017010608.1:c.25414C>G XP_016866097.1:p.Gln8472Glu
XM_017010609.1:c.25414C>G XP_016866098.1:p.Gln8472Glu
XM_017010610.1:c.25393C>G XP_016866099.1:p.Gln8465Glu
XM_017010611.2:c.25387C>G XP_016866100.1:p.Gln8463Glu
XM_017010612.1:c.25336C>G XP_016866101.1:p.Gln8446Glu
XM_017010613.1:c.25342C>G XP_016866102.1:p.Gln8448Glu
XM_017010614.1:c.25258C>G XP_016866103.1:p.Gln8420Glu
XM_017010615.1:c.25189C>G XP_016866104.1:p.Gln8397Glu
XM_017010616.1:c.25345C>G XP_016866105.1:p.Gln8449Glu
XM_017010617.1:c.25342C>G XP_016866106.1:p.Gln8448Glu
XM_017010618.1:c.25330C>G XP_016866107.1:p.Gln8444Glu
XM_017010619.1:c.23689C>G XP_016866108.1:p.Gln7897Glu
NM_182961.4:c.25309C>G MANE Select NP_892006.3:p.Gln8437Glu
NM_001347701.2:c.1915C>G NP_001334630.1:p.Gln639Glu
NM_001347702.2:c.1843C>G MANE Plus Clinical NP_001334631.1:p.Gln615Glu
NM_033071.5:c.25165C>G NP_149062.2:p.Gln8389Glu