Canonical Allele Identifier: CA366099217

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534804T>G (hg19) ; chr6:g.152213669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213669T>G , CM000668.2:g.152213669T>G	GRCh38
NC_000006.11:g.152534804T>G , CM000668.1:g.152534804T>G	GRCh37
NC_000006.10:g.152576497T>G	NCBI36
NG_012855.1:g.428731A>C
NG_012855.2:g.428731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22437A>C MANE Select	ENSP00000356224.5:p.Leu7479Phe
ENST00000423061.6:c.22224A>C	ENSP00000396024.1:p.Leu7408Phe
ENST00000341594.9:c.21222A>C	ENSP00000341887.6:p.Leu7074Phe
ENST00000367251.7:c.1203A>C	ENSP00000356220.3:p.Leu401Phe
ENST00000367255.9:c.22437A>C	ENSP00000356224.5:p.Leu7479Phe
ENST00000367256.9:n.6129A>C
ENST00000367257.8:c.375A>C	ENSP00000356226.4:p.Leu125Phe
ENST00000409694.6:n.6021A>C
ENST00000423061.5:c.22224A>C	ENSP00000396024.1:p.Leu7408Phe
NM_033071.3:c.22224A>C	NP_149062.1:p.Leu7408Phe
NM_182961.3:c.22437A>C	NP_892006.3:p.Leu7479Phe
XM_006715407.1:c.22473A>C	XP_006715470.1:p.Leu7491Phe
XM_006715408.1:c.22461A>C	XP_006715471.1:p.Leu7487Phe
XM_006715409.1:c.22452A>C	XP_006715472.1:p.Leu7484Phe
XM_006715410.1:c.22473A>C	XP_006715473.1:p.Leu7491Phe
XM_006715411.1:c.22422A>C	XP_006715474.1:p.Leu7474Phe
XM_006715412.1:c.22458A>C	XP_006715475.1:p.Leu7486Phe
XM_006715413.1:c.22473A>C	XP_006715476.1:p.Leu7491Phe
XM_006715414.1:c.22401A>C	XP_006715477.1:p.Leu7467Phe
XM_006715415.1:c.22473A>C	XP_006715478.1:p.Leu7491Phe
XM_006715416.1:c.22458A>C	XP_006715479.1:p.Leu7486Phe
XM_006715417.1:c.22332A>C	XP_006715480.1:p.Leu7444Phe
XM_006715420.1:c.22320A>C	XP_006715483.1:p.Leu7440Phe
XM_006715421.1:c.22317A>C	XP_006715484.1:p.Leu7439Phe
XM_006715422.1:c.22314A>C	XP_006715485.1:p.Leu7438Phe
XM_006715423.1:c.22473A>C	XP_006715486.1:p.Leu7491Phe
XM_006715424.1:c.22473A>C	XP_006715487.1:p.Leu7491Phe
XM_006715425.1:c.22473A>C	XP_006715488.1:p.Leu7491Phe
XM_011535641.1:c.22470A>C	XP_011533943.1:p.Leu7490Phe
XM_011535642.1:c.22458A>C	XP_011533944.1:p.Leu7486Phe
XM_011535643.1:c.22308A>C	XP_011533945.1:p.Leu7436Phe
XM_011535644.1:c.20748A>C	XP_011533946.1:p.Leu6916Phe
XM_011535645.1:c.20241A>C	XP_011533947.1:p.Leu6747Phe
XM_011535647.1:c.15708A>C	XP_011533949.1:p.Leu5236Phe
XM_006715408.2:c.22461A>C	XP_006715471.1:p.Leu7487Phe
XM_006715410.2:c.22473A>C	XP_006715473.1:p.Leu7491Phe
XM_006715412.2:c.22458A>C	XP_006715475.1:p.Leu7486Phe
XM_006715413.2:c.22473A>C	XP_006715476.1:p.Leu7491Phe
XM_006715415.2:c.22473A>C	XP_006715478.1:p.Leu7491Phe
XM_006715416.2:c.22458A>C	XP_006715479.1:p.Leu7486Phe
XM_006715417.2:c.22332A>C	XP_006715480.1:p.Leu7444Phe
XM_006715420.2:c.22320A>C	XP_006715483.1:p.Leu7440Phe
XM_006715421.2:c.22317A>C	XP_006715484.1:p.Leu7439Phe
XM_006715423.2:c.22473A>C	XP_006715486.1:p.Leu7491Phe
XM_006715424.2:c.22473A>C	XP_006715487.1:p.Leu7491Phe
XM_006715425.2:c.22473A>C	XP_006715488.1:p.Leu7491Phe
XM_011535641.2:c.22470A>C	XP_011533943.1:p.Leu7490Phe
XM_011535642.2:c.22458A>C	XP_011533944.1:p.Leu7486Phe
XM_011535645.2:c.20241A>C	XP_011533947.1:p.Leu6747Phe
XM_017010608.1:c.22473A>C	XP_016866097.1:p.Leu7491Phe
XM_017010609.1:c.22473A>C	XP_016866098.1:p.Leu7491Phe
XM_017010610.1:c.22452A>C	XP_016866099.1:p.Leu7484Phe
XM_017010611.2:c.22446A>C	XP_016866100.1:p.Leu7482Phe
XM_017010612.1:c.22395A>C	XP_016866101.1:p.Leu7465Phe
XM_017010613.1:c.22470A>C	XP_016866102.1:p.Leu7490Phe
XM_017010614.1:c.22317A>C	XP_016866103.1:p.Leu7439Phe
XM_017010615.1:c.22317A>C	XP_016866104.1:p.Leu7439Phe
XM_017010616.1:c.22473A>C	XP_016866105.1:p.Leu7491Phe
XM_017010617.1:c.22470A>C	XP_016866106.1:p.Leu7490Phe
XM_017010618.1:c.22458A>C	XP_016866107.1:p.Leu7486Phe
XM_017010619.1:c.20748A>C	XP_016866108.1:p.Leu6916Phe
NM_182961.4:c.22437A>C MANE Select	NP_892006.3:p.Leu7479Phe
NM_033071.5:c.22224A>C	NP_149062.2:p.Leu7408Phe