Canonical Allele Identifier: CA366082938

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464772T>C (hg19) ; chr6:g.152143637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143637T>C , CM000668.2:g.152143637T>C	GRCh38
NC_000006.11:g.152464772T>C , CM000668.1:g.152464772T>C	GRCh37
NC_000006.10:g.152506465T>C	NCBI36
NG_012855.1:g.498763A>G
NG_012855.2:g.498763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1639A>G MANE Plus Clinical	ENSP00000346701.4:p.Ser547Gly
ENST00000367255.10:c.25105A>G MANE Select	ENSP00000356224.5:p.Ser8369Gly
ENST00000423061.6:c.24961A>G	ENSP00000396024.1:p.Ser8321Gly
ENST00000672154.1:c.507A>G
ENST00000672169.1:c.840A>G
ENST00000673173.1:c.891-3476A>G
ENST00000673451.1:c.877A>G	ENSP00000500189.1:p.Ser293Gly
ENST00000341594.9:c.23890A>G	ENSP00000341887.6:p.Ser7964Gly
ENST00000347037.9:n.1853A>G
ENST00000354674.4:c.1639A>G	ENSP00000346701.4:p.Ser547Gly
ENST00000367251.7:c.3940A>G	ENSP00000356220.3:p.Ser1314Gly
ENST00000367255.9:c.25105A>G	ENSP00000356224.5:p.Ser8369Gly
ENST00000367256.9:n.8797A>G
ENST00000367257.8:c.3043A>G	ENSP00000356226.4:p.Ser1015Gly
ENST00000409694.6:n.8689A>G
ENST00000423061.5:c.24961A>G	ENSP00000396024.1:p.Ser8321Gly
ENST00000460912.6:n.1719A>G
ENST00000478916.5:n.4127A>G
ENST00000536990.5:n.1942A>G
ENST00000539504.5:c.1570A>G	ENSP00000441052.1:p.Ser524Gly
NM_033071.3:c.24961A>G	NP_149062.1:p.Ser8321Gly
NM_182961.3:c.25105A>G	NP_892006.3:p.Ser8369Gly
XM_006715407.1:c.25210A>G	XP_006715470.1:p.Ser8404Gly
XM_006715408.1:c.25198A>G	XP_006715471.1:p.Ser8400Gly
XM_006715409.1:c.25189A>G	XP_006715472.1:p.Ser8397Gly
XM_006715410.1:c.25210A>G	XP_006715473.1:p.Ser8404Gly
XM_006715411.1:c.25159A>G	XP_006715474.1:p.Ser8387Gly
XM_006715412.1:c.25195A>G	XP_006715475.1:p.Ser8399Gly
XM_006715413.1:c.25141A>G	XP_006715476.1:p.Ser8381Gly
XM_006715414.1:c.25138A>G	XP_006715477.1:p.Ser8380Gly
XM_006715415.1:c.25141A>G	XP_006715478.1:p.Ser8381Gly
XM_006715416.1:c.25126A>G	XP_006715479.1:p.Ser8376Gly
XM_006715417.1:c.25069A>G	XP_006715480.1:p.Ser8357Gly
XM_006715420.1:c.25057A>G	XP_006715483.1:p.Ser8353Gly
XM_006715421.1:c.25054A>G	XP_006715484.1:p.Ser8352Gly
XM_006715422.1:c.25051A>G	XP_006715485.1:p.Ser8351Gly
XM_006715423.1:c.25210A>G	XP_006715486.1:p.Ser8404Gly
XM_006715424.1:c.25210A>G	XP_006715487.1:p.Ser8404Gly
XM_006715425.1:c.25141A>G	XP_006715488.1:p.Ser8381Gly
XM_011535641.1:c.25207A>G	XP_011533943.1:p.Ser8403Gly
XM_011535642.1:c.25195A>G	XP_011533944.1:p.Ser8399Gly
XM_011535643.1:c.25045A>G	XP_011533945.1:p.Ser8349Gly
XM_011535644.1:c.23485A>G	XP_011533946.1:p.Ser7829Gly
XM_011535645.1:c.22978A>G	XP_011533947.1:p.Ser7660Gly
XM_011535647.1:c.18445A>G	XP_011533949.1:p.Ser6149Gly
NM_001347701.1:c.1711A>G	NP_001334630.1:p.Ser571Gly
NM_001347702.1:c.1639A>G	NP_001334631.1:p.Ser547Gly
XM_006715408.2:c.25198A>G	XP_006715471.1:p.Ser8400Gly
XM_006715410.2:c.25210A>G	XP_006715473.1:p.Ser8404Gly
XM_006715412.2:c.25195A>G	XP_006715475.1:p.Ser8399Gly
XM_006715413.2:c.25141A>G	XP_006715476.1:p.Ser8381Gly
XM_006715415.2:c.25141A>G	XP_006715478.1:p.Ser8381Gly
XM_006715416.2:c.25126A>G	XP_006715479.1:p.Ser8376Gly
XM_006715417.2:c.25069A>G	XP_006715480.1:p.Ser8357Gly
XM_006715420.2:c.25057A>G	XP_006715483.1:p.Ser8353Gly
XM_006715421.2:c.25054A>G	XP_006715484.1:p.Ser8352Gly
XM_006715423.2:c.25210A>G	XP_006715486.1:p.Ser8404Gly
XM_006715424.2:c.25210A>G	XP_006715487.1:p.Ser8404Gly
XM_006715425.2:c.25141A>G	XP_006715488.1:p.Ser8381Gly
XM_011535641.2:c.25207A>G	XP_011533943.1:p.Ser8403Gly
XM_011535642.2:c.25195A>G	XP_011533944.1:p.Ser8399Gly
XM_011535645.2:c.22978A>G	XP_011533947.1:p.Ser7660Gly
XM_017010608.1:c.25210A>G	XP_016866097.1:p.Ser8404Gly
XM_017010609.1:c.25210A>G	XP_016866098.1:p.Ser8404Gly
XM_017010610.1:c.25189A>G	XP_016866099.1:p.Ser8397Gly
XM_017010611.2:c.25183A>G	XP_016866100.1:p.Ser8395Gly
XM_017010612.1:c.25132A>G	XP_016866101.1:p.Ser8378Gly
XM_017010613.1:c.25138A>G	XP_016866102.1:p.Ser8380Gly
XM_017010614.1:c.25054A>G	XP_016866103.1:p.Ser8352Gly
XM_017010615.1:c.24985A>G	XP_016866104.1:p.Ser8329Gly
XM_017010616.1:c.25141A>G	XP_016866105.1:p.Ser8381Gly
XM_017010617.1:c.25138A>G	XP_016866106.1:p.Ser8380Gly
XM_017010618.1:c.25126A>G	XP_016866107.1:p.Ser8376Gly
XM_017010619.1:c.23485A>G	XP_016866108.1:p.Ser7829Gly
NM_182961.4:c.25105A>G MANE Select	NP_892006.3:p.Ser8369Gly
NM_001347701.2:c.1711A>G	NP_001334630.1:p.Ser571Gly
NM_001347702.2:c.1639A>G MANE Plus Clinical	NP_001334631.1:p.Ser547Gly
NM_033071.5:c.24961A>G	NP_149062.2:p.Ser8321Gly