Canonical Allele Identifier: CA150166668

Gene: SYNE1

Linked Data

• dbSNP Id: rs867403692
• MyVariant Identifiers: chr6:g.152462374A>G (hg19) ; chr6:g.152141239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141239A>G , CM000668.2:g.152141239A>G	GRCh38
NC_000006.11:g.152462374A>G , CM000668.1:g.152462374A>G	GRCh37
NC_000006.10:g.152504067A>G	NCBI36
NG_012855.1:g.501161T>C
NG_012855.2:g.501161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1744T>C MANE Plus Clinical	ENSP00000346701.4:p.Phe582Leu
ENST00000367255.10:c.25210T>C MANE Select	ENSP00000356224.5:p.Phe8404Leu
ENST00000423061.6:c.25066T>C	ENSP00000396024.1:p.Phe8356Leu
ENST00000672154.1:c.612T>C
ENST00000672169.1:c.945T>C
ENST00000673173.1:c.891-1078T>C
ENST00000673451.1:c.982T>C	ENSP00000500189.1:p.Phe328Leu
ENST00000341594.9:c.23995T>C	ENSP00000341887.6:p.Phe7999Leu
ENST00000347037.9:n.1958T>C
ENST00000354674.4:c.1744T>C	ENSP00000346701.4:p.Phe582Leu
ENST00000367251.7:c.4045T>C	ENSP00000356220.3:p.Phe1349Leu
ENST00000367255.9:c.25210T>C	ENSP00000356224.5:p.Phe8404Leu
ENST00000367256.9:n.8902T>C
ENST00000367257.8:c.3148T>C	ENSP00000356226.4:p.Phe1050Leu
ENST00000409694.6:n.8794T>C
ENST00000423061.5:c.25066T>C	ENSP00000396024.1:p.Phe8356Leu
ENST00000460912.6:n.1824T>C
ENST00000478916.5:n.4232T>C
ENST00000536990.5:n.2047T>C
ENST00000539504.5:c.1675T>C	ENSP00000441052.1:p.Phe559Leu
NM_033071.3:c.25066T>C	NP_149062.1:p.Phe8356Leu
NM_182961.3:c.25210T>C	NP_892006.3:p.Phe8404Leu
XM_006715407.1:c.25315T>C	XP_006715470.1:p.Phe8439Leu
XM_006715408.1:c.25303T>C	XP_006715471.1:p.Phe8435Leu
XM_006715409.1:c.25294T>C	XP_006715472.1:p.Phe8432Leu
XM_006715410.1:c.25315T>C	XP_006715473.1:p.Phe8439Leu
XM_006715411.1:c.25264T>C	XP_006715474.1:p.Phe8422Leu
XM_006715412.1:c.25300T>C	XP_006715475.1:p.Phe8434Leu
XM_006715413.1:c.25246T>C	XP_006715476.1:p.Phe8416Leu
XM_006715414.1:c.25243T>C	XP_006715477.1:p.Phe8415Leu
XM_006715415.1:c.25246T>C	XP_006715478.1:p.Phe8416Leu
XM_006715416.1:c.25231T>C	XP_006715479.1:p.Phe8411Leu
XM_006715417.1:c.25174T>C	XP_006715480.1:p.Phe8392Leu
XM_006715420.1:c.25162T>C	XP_006715483.1:p.Phe8388Leu
XM_006715421.1:c.25159T>C	XP_006715484.1:p.Phe8387Leu
XM_006715422.1:c.25156T>C	XP_006715485.1:p.Phe8386Leu
XM_006715423.1:c.25315T>C	XP_006715486.1:p.Phe8439Leu
XM_006715424.1:c.25315T>C	XP_006715487.1:p.Phe8439Leu
XM_006715425.1:c.25246T>C	XP_006715488.1:p.Phe8416Leu
XM_011535641.1:c.25312T>C	XP_011533943.1:p.Phe8438Leu
XM_011535642.1:c.25300T>C	XP_011533944.1:p.Phe8434Leu
XM_011535643.1:c.25150T>C	XP_011533945.1:p.Phe8384Leu
XM_011535644.1:c.23590T>C	XP_011533946.1:p.Phe7864Leu
XM_011535645.1:c.23083T>C	XP_011533947.1:p.Phe7695Leu
XM_011535647.1:c.18550T>C	XP_011533949.1:p.Phe6184Leu
NM_001347701.1:c.1816T>C	NP_001334630.1:p.Phe606Leu
NM_001347702.1:c.1744T>C	NP_001334631.1:p.Phe582Leu
XM_006715408.2:c.25303T>C	XP_006715471.1:p.Phe8435Leu
XM_006715410.2:c.25315T>C	XP_006715473.1:p.Phe8439Leu
XM_006715412.2:c.25300T>C	XP_006715475.1:p.Phe8434Leu
XM_006715413.2:c.25246T>C	XP_006715476.1:p.Phe8416Leu
XM_006715415.2:c.25246T>C	XP_006715478.1:p.Phe8416Leu
XM_006715416.2:c.25231T>C	XP_006715479.1:p.Phe8411Leu
XM_006715417.2:c.25174T>C	XP_006715480.1:p.Phe8392Leu
XM_006715420.2:c.25162T>C	XP_006715483.1:p.Phe8388Leu
XM_006715421.2:c.25159T>C	XP_006715484.1:p.Phe8387Leu
XM_006715423.2:c.25315T>C	XP_006715486.1:p.Phe8439Leu
XM_006715424.2:c.25315T>C	XP_006715487.1:p.Phe8439Leu
XM_006715425.2:c.25246T>C	XP_006715488.1:p.Phe8416Leu
XM_011535641.2:c.25312T>C	XP_011533943.1:p.Phe8438Leu
XM_011535642.2:c.25300T>C	XP_011533944.1:p.Phe8434Leu
XM_011535645.2:c.23083T>C	XP_011533947.1:p.Phe7695Leu
XM_017010608.1:c.25315T>C	XP_016866097.1:p.Phe8439Leu
XM_017010609.1:c.25315T>C	XP_016866098.1:p.Phe8439Leu
XM_017010610.1:c.25294T>C	XP_016866099.1:p.Phe8432Leu
XM_017010611.2:c.25288T>C	XP_016866100.1:p.Phe8430Leu
XM_017010612.1:c.25237T>C	XP_016866101.1:p.Phe8413Leu
XM_017010613.1:c.25243T>C	XP_016866102.1:p.Phe8415Leu
XM_017010614.1:c.25159T>C	XP_016866103.1:p.Phe8387Leu
XM_017010615.1:c.25090T>C	XP_016866104.1:p.Phe8364Leu
XM_017010616.1:c.25246T>C	XP_016866105.1:p.Phe8416Leu
XM_017010617.1:c.25243T>C	XP_016866106.1:p.Phe8415Leu
XM_017010618.1:c.25231T>C	XP_016866107.1:p.Phe8411Leu
XM_017010619.1:c.23590T>C	XP_016866108.1:p.Phe7864Leu
NM_182961.4:c.25210T>C MANE Select	NP_892006.3:p.Phe8404Leu
NM_001347701.2:c.1816T>C	NP_001334630.1:p.Phe606Leu
NM_001347702.2:c.1744T>C MANE Plus Clinical	NP_001334631.1:p.Phe582Leu
NM_033071.5:c.25066T>C	NP_149062.2:p.Phe8356Leu