Canonical Allele Identifier: CA366087018
Community Standard Title: NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152152050G>C , CM000668.2:g.152152050G>C GRCh38
NC_000006.11:g.152473185G>C , CM000668.1:g.152473185G>C GRCh37
NC_000006.10:g.152514878G>C NCBI36
NG_012855.1:g.490350C>G
NG_012855.2:g.490350C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.24221C>G MANE Select NP_892006.3:p.Ser8074Ter
ENST00000367255.10:c.24221C>G MANE Select ENSP00000356224.5:p.Ser8074Ter
NM_001347702.2:c.686C>G MANE Plus Clinical NP_001334631.1:p.Ser229Ter
ENST00000354674.5:c.686C>G MANE Plus Clinical ENSP00000346701.4:p.Ser229Ter
NM_001347701.1:c.827C>G NP_001334630.1:p.Ser276Ter
NM_001347701.2:c.827C>G NP_001334630.1:p.Ser276Ter
NM_001347702.1:c.686C>G NP_001334631.1:p.Ser229Ter
NM_033071.3:c.24008C>G NP_149062.1:p.Ser8003Ter
NM_033071.5:c.24008C>G NP_149062.2:p.Ser8003Ter
NM_182961.3:c.24221C>G NP_892006.3:p.Ser8074Ter
ENST00000341594.9:c.23006C>G ENSP00000341887.6:p.Ser7669Ter
ENST00000347037.9:n.900C>G
ENST00000354674.4:c.686C>G ENSP00000346701.4:p.Ser229Ter
ENST00000367251.7:c.2987C>G ENSP00000356220.3:p.Ser996Ter
ENST00000367255.9:c.24221C>G ENSP00000356224.5:p.Ser8074Ter
ENST00000367256.9:n.7913C>G
ENST00000367257.8:c.2159C>G ENSP00000356226.4:p.Ser720Ter
ENST00000409694.6:n.7805C>G
ENST00000423061.5:c.24008C>G ENSP00000396024.1:p.Ser8003Ter
ENST00000423061.6:c.24008C>G ENSP00000396024.1:p.Ser8003Ter
ENST00000460912.6:n.766C>G
ENST00000476519.1:n.283C>G
ENST00000536990.5:n.1058C>G
ENST00000539504.5:c.686C>G ENSP00000441052.1:p.Ser229Ter
ENST00000673173.1:c.135C>G
XM_006715407.1:c.24257C>G XP_006715470.1:p.Ser8086Ter
XM_006715408.1:c.24245C>G XP_006715471.1:p.Ser8082Ter
XM_006715408.2:c.24245C>G XP_006715471.1:p.Ser8082Ter
XM_006715409.1:c.24236C>G XP_006715472.1:p.Ser8079Ter
XM_006715410.1:c.24257C>G XP_006715473.1:p.Ser8086Ter
XM_006715410.2:c.24257C>G XP_006715473.1:p.Ser8086Ter
XM_006715411.1:c.24206C>G XP_006715474.1:p.Ser8069Ter
XM_006715412.1:c.24242C>G XP_006715475.1:p.Ser8081Ter
XM_006715412.2:c.24242C>G XP_006715475.1:p.Ser8081Ter
XM_006715413.1:c.24257C>G XP_006715476.1:p.Ser8086Ter
XM_006715413.2:c.24257C>G XP_006715476.1:p.Ser8086Ter
XM_006715414.1:c.24185C>G XP_006715477.1:p.Ser8062Ter
XM_006715415.1:c.24257C>G XP_006715478.1:p.Ser8086Ter
XM_006715415.2:c.24257C>G XP_006715478.1:p.Ser8086Ter
XM_006715416.1:c.24242C>G XP_006715479.1:p.Ser8081Ter
XM_006715416.2:c.24242C>G XP_006715479.1:p.Ser8081Ter
XM_006715417.1:c.24116C>G XP_006715480.1:p.Ser8039Ter
XM_006715417.2:c.24116C>G XP_006715480.1:p.Ser8039Ter
XM_006715420.1:c.24104C>G XP_006715483.1:p.Ser8035Ter
XM_006715420.2:c.24104C>G XP_006715483.1:p.Ser8035Ter
XM_006715421.1:c.24101C>G XP_006715484.1:p.Ser8034Ter
XM_006715421.2:c.24101C>G XP_006715484.1:p.Ser8034Ter
XM_006715422.1:c.24098C>G XP_006715485.1:p.Ser8033Ter
XM_006715423.1:c.24257C>G XP_006715486.1:p.Ser8086Ter
XM_006715423.2:c.24257C>G XP_006715486.1:p.Ser8086Ter
XM_006715424.1:c.24257C>G XP_006715487.1:p.Ser8086Ter
XM_006715424.2:c.24257C>G XP_006715487.1:p.Ser8086Ter
XM_006715425.1:c.24257C>G XP_006715488.1:p.Ser8086Ter
XM_006715425.2:c.24257C>G XP_006715488.1:p.Ser8086Ter
XM_011535641.1:c.24254C>G XP_011533943.1:p.Ser8085Ter
XM_011535641.2:c.24254C>G XP_011533943.1:p.Ser8085Ter
XM_011535642.1:c.24242C>G XP_011533944.1:p.Ser8081Ter
XM_011535642.2:c.24242C>G XP_011533944.1:p.Ser8081Ter
XM_011535643.1:c.24092C>G XP_011533945.1:p.Ser8031Ter
XM_011535644.1:c.22532C>G XP_011533946.1:p.Ser7511Ter
XM_011535645.1:c.22025C>G XP_011533947.1:p.Ser7342Ter
XM_011535645.2:c.22025C>G XP_011533947.1:p.Ser7342Ter
XM_011535647.1:c.17492C>G XP_011533949.1:p.Ser5831Ter
XM_017010608.1:c.24257C>G XP_016866097.1:p.Ser8086Ter
XM_017010609.1:c.24257C>G XP_016866098.1:p.Ser8086Ter
XM_017010610.1:c.24236C>G XP_016866099.1:p.Ser8079Ter
XM_017010611.2:c.24230C>G XP_016866100.1:p.Ser8077Ter
XM_017010612.1:c.24179C>G XP_016866101.1:p.Ser8060Ter
XM_017010613.1:c.24254C>G XP_016866102.1:p.Ser8085Ter
XM_017010614.1:c.24101C>G XP_016866103.1:p.Ser8034Ter
XM_017010615.1:c.24101C>G XP_016866104.1:p.Ser8034Ter
XM_017010616.1:c.24257C>G XP_016866105.1:p.Ser8086Ter
XM_017010617.1:c.24254C>G XP_016866106.1:p.Ser8085Ter
XM_017010618.1:c.24242C>G XP_016866107.1:p.Ser8081Ter
XM_017010619.1:c.22532C>G XP_016866108.1:p.Ser7511Ter