Canonical Allele Identifier: CA366099339

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 436906
• ClinVar RCV Id: RCV000499650
• dbSNP Id: rs1554573328
• MyVariant Identifiers: chr6:g.152534833C>A (hg19) ; chr6:g.152213698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213698C>A , CM000668.2:g.152213698C>A	GRCh38
NC_000006.11:g.152534833C>A , CM000668.1:g.152534833C>A	GRCh37
NC_000006.10:g.152576526C>A	NCBI36
NG_012855.1:g.428702G>T
NG_012855.2:g.428702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22408G>T MANE Select	ENSP00000356224.5:p.Glu7470Ter
ENST00000423061.6:c.22195G>T	ENSP00000396024.1:p.Glu7399Ter
ENST00000341594.9:c.21193G>T	ENSP00000341887.6:p.Glu7065Ter
ENST00000367251.7:c.1174G>T	ENSP00000356220.3:p.Glu392Ter
ENST00000367255.9:c.22408G>T	ENSP00000356224.5:p.Glu7470Ter
ENST00000367256.9:n.6100G>T
ENST00000367257.8:c.346G>T	ENSP00000356226.4:p.Glu116Ter
ENST00000409694.6:n.5992G>T
ENST00000423061.5:c.22195G>T	ENSP00000396024.1:p.Glu7399Ter
NM_033071.3:c.22195G>T	NP_149062.1:p.Glu7399Ter
NM_182961.3:c.22408G>T	NP_892006.3:p.Glu7470Ter
XM_006715407.1:c.22444G>T	XP_006715470.1:p.Glu7482Ter
XM_006715408.1:c.22432G>T	XP_006715471.1:p.Glu7478Ter
XM_006715409.1:c.22423G>T	XP_006715472.1:p.Glu7475Ter
XM_006715410.1:c.22444G>T	XP_006715473.1:p.Glu7482Ter
XM_006715411.1:c.22393G>T	XP_006715474.1:p.Glu7465Ter
XM_006715412.1:c.22429G>T	XP_006715475.1:p.Glu7477Ter
XM_006715413.1:c.22444G>T	XP_006715476.1:p.Glu7482Ter
XM_006715414.1:c.22372G>T	XP_006715477.1:p.Glu7458Ter
XM_006715415.1:c.22444G>T	XP_006715478.1:p.Glu7482Ter
XM_006715416.1:c.22429G>T	XP_006715479.1:p.Glu7477Ter
XM_006715417.1:c.22303G>T	XP_006715480.1:p.Glu7435Ter
XM_006715420.1:c.22291G>T	XP_006715483.1:p.Glu7431Ter
XM_006715421.1:c.22288G>T	XP_006715484.1:p.Glu7430Ter
XM_006715422.1:c.22285G>T	XP_006715485.1:p.Glu7429Ter
XM_006715423.1:c.22444G>T	XP_006715486.1:p.Glu7482Ter
XM_006715424.1:c.22444G>T	XP_006715487.1:p.Glu7482Ter
XM_006715425.1:c.22444G>T	XP_006715488.1:p.Glu7482Ter
XM_011535641.1:c.22441G>T	XP_011533943.1:p.Glu7481Ter
XM_011535642.1:c.22429G>T	XP_011533944.1:p.Glu7477Ter
XM_011535643.1:c.22279G>T	XP_011533945.1:p.Glu7427Ter
XM_011535644.1:c.20719G>T	XP_011533946.1:p.Glu6907Ter
XM_011535645.1:c.20212G>T	XP_011533947.1:p.Glu6738Ter
XM_011535647.1:c.15679G>T	XP_011533949.1:p.Glu5227Ter
XM_006715408.2:c.22432G>T	XP_006715471.1:p.Glu7478Ter
XM_006715410.2:c.22444G>T	XP_006715473.1:p.Glu7482Ter
XM_006715412.2:c.22429G>T	XP_006715475.1:p.Glu7477Ter
XM_006715413.2:c.22444G>T	XP_006715476.1:p.Glu7482Ter
XM_006715415.2:c.22444G>T	XP_006715478.1:p.Glu7482Ter
XM_006715416.2:c.22429G>T	XP_006715479.1:p.Glu7477Ter
XM_006715417.2:c.22303G>T	XP_006715480.1:p.Glu7435Ter
XM_006715420.2:c.22291G>T	XP_006715483.1:p.Glu7431Ter
XM_006715421.2:c.22288G>T	XP_006715484.1:p.Glu7430Ter
XM_006715423.2:c.22444G>T	XP_006715486.1:p.Glu7482Ter
XM_006715424.2:c.22444G>T	XP_006715487.1:p.Glu7482Ter
XM_006715425.2:c.22444G>T	XP_006715488.1:p.Glu7482Ter
XM_011535641.2:c.22441G>T	XP_011533943.1:p.Glu7481Ter
XM_011535642.2:c.22429G>T	XP_011533944.1:p.Glu7477Ter
XM_011535645.2:c.20212G>T	XP_011533947.1:p.Glu6738Ter
XM_017010608.1:c.22444G>T	XP_016866097.1:p.Glu7482Ter
XM_017010609.1:c.22444G>T	XP_016866098.1:p.Glu7482Ter
XM_017010610.1:c.22423G>T	XP_016866099.1:p.Glu7475Ter
XM_017010611.2:c.22417G>T	XP_016866100.1:p.Glu7473Ter
XM_017010612.1:c.22366G>T	XP_016866101.1:p.Glu7456Ter
XM_017010613.1:c.22441G>T	XP_016866102.1:p.Glu7481Ter
XM_017010614.1:c.22288G>T	XP_016866103.1:p.Glu7430Ter
XM_017010615.1:c.22288G>T	XP_016866104.1:p.Glu7430Ter
XM_017010616.1:c.22444G>T	XP_016866105.1:p.Glu7482Ter
XM_017010617.1:c.22441G>T	XP_016866106.1:p.Glu7481Ter
XM_017010618.1:c.22429G>T	XP_016866107.1:p.Glu7477Ter
XM_017010619.1:c.20719G>T	XP_016866108.1:p.Glu6907Ter
NM_182961.4:c.22408G>T MANE Select	NP_892006.3:p.Glu7470Ter
NM_033071.5:c.22195G>T	NP_149062.2:p.Glu7399Ter