Canonical Allele Identifier: CA366080561

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461218C>A (hg19) ; chr6:g.152140083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140083C>A , CM000668.2:g.152140083C>A	GRCh38
NC_000006.11:g.152461218C>A , CM000668.1:g.152461218C>A	GRCh37
NC_000006.10:g.152502911C>A	NCBI36
NG_012855.1:g.502317G>T
NG_012855.2:g.502317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1859G>T MANE Plus Clinical	ENSP00000346701.4:p.Trp620Leu
ENST00000367255.10:c.25325G>T MANE Select	ENSP00000356224.5:p.Trp8442Leu
ENST00000423061.6:c.25181G>T	ENSP00000396024.1:p.Trp8394Leu
ENST00000672154.1:c.727G>T
ENST00000672169.1:c.1060G>T
ENST00000673173.1:c.969G>T
ENST00000673451.1:c.1097G>T	ENSP00000500189.1:p.Trp366Leu
ENST00000341594.9:c.24110G>T	ENSP00000341887.6:p.Trp8037Leu
ENST00000347037.9:n.2073G>T
ENST00000354674.4:c.1859G>T	ENSP00000346701.4:p.Trp620Leu
ENST00000367251.7:c.4160G>T	ENSP00000356220.3:p.Trp1387Leu
ENST00000367255.9:c.25325G>T	ENSP00000356224.5:p.Trp8442Leu
ENST00000367256.9:n.9017G>T
ENST00000367257.8:c.3263G>T	ENSP00000356226.4:p.Trp1088Leu
ENST00000409694.6:n.8909G>T
ENST00000423061.5:c.25181G>T	ENSP00000396024.1:p.Trp8394Leu
ENST00000460912.6:n.1939G>T
ENST00000478916.5:n.4347G>T
ENST00000536990.5:n.2162G>T
ENST00000539504.5:c.1790G>T	ENSP00000441052.1:p.Trp597Leu
NM_033071.3:c.25181G>T	NP_149062.1:p.Trp8394Leu
NM_182961.3:c.25325G>T	NP_892006.3:p.Trp8442Leu
XM_006715407.1:c.25430G>T	XP_006715470.1:p.Trp8477Leu
XM_006715408.1:c.25418G>T	XP_006715471.1:p.Trp8473Leu
XM_006715409.1:c.25409G>T	XP_006715472.1:p.Trp8470Leu
XM_006715410.1:c.25430G>T	XP_006715473.1:p.Trp8477Leu
XM_006715411.1:c.25379G>T	XP_006715474.1:p.Trp8460Leu
XM_006715412.1:c.25415G>T	XP_006715475.1:p.Trp8472Leu
XM_006715413.1:c.25361G>T	XP_006715476.1:p.Trp8454Leu
XM_006715414.1:c.25358G>T	XP_006715477.1:p.Trp8453Leu
XM_006715415.1:c.25361G>T	XP_006715478.1:p.Trp8454Leu
XM_006715416.1:c.25346G>T	XP_006715479.1:p.Trp8449Leu
XM_006715417.1:c.25289G>T	XP_006715480.1:p.Trp8430Leu
XM_006715420.1:c.25277G>T	XP_006715483.1:p.Trp8426Leu
XM_006715421.1:c.25274G>T	XP_006715484.1:p.Trp8425Leu
XM_006715422.1:c.25271G>T	XP_006715485.1:p.Trp8424Leu
XM_006715423.1:c.25430G>T	XP_006715486.1:p.Trp8477Leu
XM_006715424.1:c.25430G>T	XP_006715487.1:p.Trp8477Leu
XM_006715425.1:c.25361G>T	XP_006715488.1:p.Trp8454Leu
XM_011535641.1:c.25427G>T	XP_011533943.1:p.Trp8476Leu
XM_011535642.1:c.25415G>T	XP_011533944.1:p.Trp8472Leu
XM_011535643.1:c.25265G>T	XP_011533945.1:p.Trp8422Leu
XM_011535644.1:c.23705G>T	XP_011533946.1:p.Trp7902Leu
XM_011535645.1:c.23198G>T	XP_011533947.1:p.Trp7733Leu
XM_011535647.1:c.18665G>T	XP_011533949.1:p.Trp6222Leu
NM_001347701.1:c.1931G>T	NP_001334630.1:p.Trp644Leu
NM_001347702.1:c.1859G>T	NP_001334631.1:p.Trp620Leu
XM_006715408.2:c.25418G>T	XP_006715471.1:p.Trp8473Leu
XM_006715410.2:c.25430G>T	XP_006715473.1:p.Trp8477Leu
XM_006715412.2:c.25415G>T	XP_006715475.1:p.Trp8472Leu
XM_006715413.2:c.25361G>T	XP_006715476.1:p.Trp8454Leu
XM_006715415.2:c.25361G>T	XP_006715478.1:p.Trp8454Leu
XM_006715416.2:c.25346G>T	XP_006715479.1:p.Trp8449Leu
XM_006715417.2:c.25289G>T	XP_006715480.1:p.Trp8430Leu
XM_006715420.2:c.25277G>T	XP_006715483.1:p.Trp8426Leu
XM_006715421.2:c.25274G>T	XP_006715484.1:p.Trp8425Leu
XM_006715423.2:c.25430G>T	XP_006715486.1:p.Trp8477Leu
XM_006715424.2:c.25430G>T	XP_006715487.1:p.Trp8477Leu
XM_006715425.2:c.25361G>T	XP_006715488.1:p.Trp8454Leu
XM_011535641.2:c.25427G>T	XP_011533943.1:p.Trp8476Leu
XM_011535642.2:c.25415G>T	XP_011533944.1:p.Trp8472Leu
XM_011535645.2:c.23198G>T	XP_011533947.1:p.Trp7733Leu
XM_017010608.1:c.25430G>T	XP_016866097.1:p.Trp8477Leu
XM_017010609.1:c.25430G>T	XP_016866098.1:p.Trp8477Leu
XM_017010610.1:c.25409G>T	XP_016866099.1:p.Trp8470Leu
XM_017010611.2:c.25403G>T	XP_016866100.1:p.Trp8468Leu
XM_017010612.1:c.25352G>T	XP_016866101.1:p.Trp8451Leu
XM_017010613.1:c.25358G>T	XP_016866102.1:p.Trp8453Leu
XM_017010614.1:c.25274G>T	XP_016866103.1:p.Trp8425Leu
XM_017010615.1:c.25205G>T	XP_016866104.1:p.Trp8402Leu
XM_017010616.1:c.25361G>T	XP_016866105.1:p.Trp8454Leu
XM_017010617.1:c.25358G>T	XP_016866106.1:p.Trp8453Leu
XM_017010618.1:c.25346G>T	XP_016866107.1:p.Trp8449Leu
XM_017010619.1:c.23705G>T	XP_016866108.1:p.Trp7902Leu
NM_182961.4:c.25325G>T MANE Select	NP_892006.3:p.Trp8442Leu
NM_001347701.2:c.1931G>T	NP_001334630.1:p.Trp644Leu
NM_001347702.2:c.1859G>T MANE Plus Clinical	NP_001334631.1:p.Trp620Leu
NM_033071.5:c.25181G>T	NP_149062.2:p.Trp8394Leu