Canonical Allele Identifier: CA366086175

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152149534G>T , CM000668.2:g.152149534G>T	GRCh38
NC_000006.11:g.152470669G>T , CM000668.1:g.152470669G>T	GRCh37
NC_000006.10:g.152512362G>T	NCBI36
NG_012855.1:g.492866C>A
NG_012855.2:g.492866C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.24585C>A MANE Select	NP_892006.3:p.Tyr8195Ter
ENST00000367255.10:c.24585C>A MANE Select	ENSP00000356224.5:p.Tyr8195Ter
NM_001347702.2:c.1050C>A MANE Plus Clinical	NP_001334631.1:p.Tyr350Ter
ENST00000354674.5:c.1050C>A MANE Plus Clinical	ENSP00000346701.4:p.Tyr350Ter
NM_001347701.1:c.1191C>A	NP_001334630.1:p.Tyr397Ter
NM_001347701.2:c.1191C>A	NP_001334630.1:p.Tyr397Ter
NM_001347702.1:c.1050C>A	NP_001334631.1:p.Tyr350Ter
NM_033071.3:c.24372C>A	NP_149062.1:p.Tyr8124Ter
NM_033071.5:c.24372C>A	NP_149062.2:p.Tyr8124Ter
NM_182961.3:c.24585C>A	NP_892006.3:p.Tyr8195Ter
ENST00000341594.9:c.23370C>A	ENSP00000341887.6:p.Tyr7790Ter
ENST00000347037.9:n.1264C>A
ENST00000354674.4:c.1050C>A	ENSP00000346701.4:p.Tyr350Ter
ENST00000367251.7:c.3351C>A	ENSP00000356220.3:p.Tyr1117Ter
ENST00000367255.9:c.24585C>A	ENSP00000356224.5:p.Tyr8195Ter
ENST00000367256.9:n.8277C>A
ENST00000367257.8:c.2523C>A	ENSP00000356226.4:p.Tyr841Ter
ENST00000409694.6:n.8169C>A
ENST00000423061.5:c.24372C>A	ENSP00000396024.1:p.Tyr8124Ter
ENST00000423061.6:c.24372C>A	ENSP00000396024.1:p.Tyr8124Ter
ENST00000460912.6:n.1130C>A
ENST00000536990.5:n.1422C>A
ENST00000539504.5:c.1050C>A	ENSP00000441052.1:p.Tyr350Ter
ENST00000672154.1:c.101C>A
ENST00000672169.1:c.320C>A
ENST00000673173.1:c.499C>A
ENST00000673451.1:c.357C>A	ENSP00000500189.1:p.Tyr119Ter
XM_006715407.1:c.24621C>A	XP_006715470.1:p.Tyr8207Ter
XM_006715408.1:c.24609C>A	XP_006715471.1:p.Tyr8203Ter
XM_006715408.2:c.24609C>A	XP_006715471.1:p.Tyr8203Ter
XM_006715409.1:c.24600C>A	XP_006715472.1:p.Tyr8200Ter
XM_006715410.1:c.24621C>A	XP_006715473.1:p.Tyr8207Ter
XM_006715410.2:c.24621C>A	XP_006715473.1:p.Tyr8207Ter
XM_006715411.1:c.24570C>A	XP_006715474.1:p.Tyr8190Ter
XM_006715412.1:c.24606C>A	XP_006715475.1:p.Tyr8202Ter
XM_006715412.2:c.24606C>A	XP_006715475.1:p.Tyr8202Ter
XM_006715413.1:c.24621C>A	XP_006715476.1:p.Tyr8207Ter
XM_006715413.2:c.24621C>A	XP_006715476.1:p.Tyr8207Ter
XM_006715414.1:c.24549C>A	XP_006715477.1:p.Tyr8183Ter
XM_006715415.1:c.24621C>A	XP_006715478.1:p.Tyr8207Ter
XM_006715415.2:c.24621C>A	XP_006715478.1:p.Tyr8207Ter
XM_006715416.1:c.24606C>A	XP_006715479.1:p.Tyr8202Ter
XM_006715416.2:c.24606C>A	XP_006715479.1:p.Tyr8202Ter
XM_006715417.1:c.24480C>A	XP_006715480.1:p.Tyr8160Ter
XM_006715417.2:c.24480C>A	XP_006715480.1:p.Tyr8160Ter
XM_006715420.1:c.24468C>A	XP_006715483.1:p.Tyr8156Ter
XM_006715420.2:c.24468C>A	XP_006715483.1:p.Tyr8156Ter
XM_006715421.1:c.24465C>A	XP_006715484.1:p.Tyr8155Ter
XM_006715421.2:c.24465C>A	XP_006715484.1:p.Tyr8155Ter
XM_006715422.1:c.24462C>A	XP_006715485.1:p.Tyr8154Ter
XM_006715423.1:c.24621C>A	XP_006715486.1:p.Tyr8207Ter
XM_006715423.2:c.24621C>A	XP_006715486.1:p.Tyr8207Ter
XM_006715424.1:c.24621C>A	XP_006715487.1:p.Tyr8207Ter
XM_006715424.2:c.24621C>A	XP_006715487.1:p.Tyr8207Ter
XM_006715425.1:c.24621C>A	XP_006715488.1:p.Tyr8207Ter
XM_006715425.2:c.24621C>A	XP_006715488.1:p.Tyr8207Ter
XM_011535641.1:c.24618C>A	XP_011533943.1:p.Tyr8206Ter
XM_011535641.2:c.24618C>A	XP_011533943.1:p.Tyr8206Ter
XM_011535642.1:c.24606C>A	XP_011533944.1:p.Tyr8202Ter
XM_011535642.2:c.24606C>A	XP_011533944.1:p.Tyr8202Ter
XM_011535643.1:c.24456C>A	XP_011533945.1:p.Tyr8152Ter
XM_011535644.1:c.22896C>A	XP_011533946.1:p.Tyr7632Ter
XM_011535645.1:c.22389C>A	XP_011533947.1:p.Tyr7463Ter
XM_011535645.2:c.22389C>A	XP_011533947.1:p.Tyr7463Ter
XM_011535647.1:c.17856C>A	XP_011533949.1:p.Tyr5952Ter
XM_017010608.1:c.24621C>A	XP_016866097.1:p.Tyr8207Ter
XM_017010609.1:c.24621C>A	XP_016866098.1:p.Tyr8207Ter
XM_017010610.1:c.24600C>A	XP_016866099.1:p.Tyr8200Ter
XM_017010611.2:c.24594C>A	XP_016866100.1:p.Tyr8198Ter
XM_017010612.1:c.24543C>A	XP_016866101.1:p.Tyr8181Ter
XM_017010613.1:c.24618C>A	XP_016866102.1:p.Tyr8206Ter
XM_017010614.1:c.24465C>A	XP_016866103.1:p.Tyr8155Ter
XM_017010615.1:c.24465C>A	XP_016866104.1:p.Tyr8155Ter
XM_017010616.1:c.24621C>A	XP_016866105.1:p.Tyr8207Ter
XM_017010617.1:c.24618C>A	XP_016866106.1:p.Tyr8206Ter
XM_017010618.1:c.24606C>A	XP_016866107.1:p.Tyr8202Ter
XM_017010619.1:c.22896C>A	XP_016866108.1:p.Tyr7632Ter