Canonical Allele Identifier: CA366082926

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464769A>G (hg19) ; chr6:g.152143634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143634A>G , CM000668.2:g.152143634A>G	GRCh38
NC_000006.11:g.152464769A>G , CM000668.1:g.152464769A>G	GRCh37
NC_000006.10:g.152506462A>G	NCBI36
NG_012855.1:g.498766T>C
NG_012855.2:g.498766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1642T>C MANE Plus Clinical	ENSP00000346701.4:p.Tyr548His
ENST00000367255.10:c.25108T>C MANE Select	ENSP00000356224.5:p.Tyr8370His
ENST00000423061.6:c.24964T>C	ENSP00000396024.1:p.Tyr8322His
ENST00000672154.1:c.510T>C
ENST00000672169.1:c.843T>C
ENST00000673173.1:c.891-3473T>C
ENST00000673451.1:c.880T>C	ENSP00000500189.1:p.Tyr294His
ENST00000341594.9:c.23893T>C	ENSP00000341887.6:p.Tyr7965His
ENST00000347037.9:n.1856T>C
ENST00000354674.4:c.1642T>C	ENSP00000346701.4:p.Tyr548His
ENST00000367251.7:c.3943T>C	ENSP00000356220.3:p.Tyr1315His
ENST00000367255.9:c.25108T>C	ENSP00000356224.5:p.Tyr8370His
ENST00000367256.9:n.8800T>C
ENST00000367257.8:c.3046T>C	ENSP00000356226.4:p.Tyr1016His
ENST00000409694.6:n.8692T>C
ENST00000423061.5:c.24964T>C	ENSP00000396024.1:p.Tyr8322His
ENST00000460912.6:n.1722T>C
ENST00000478916.5:n.4130T>C
ENST00000536990.5:n.1945T>C
ENST00000539504.5:c.1573T>C	ENSP00000441052.1:p.Tyr525His
NM_033071.3:c.24964T>C	NP_149062.1:p.Tyr8322His
NM_182961.3:c.25108T>C	NP_892006.3:p.Tyr8370His
XM_006715407.1:c.25213T>C	XP_006715470.1:p.Tyr8405His
XM_006715408.1:c.25201T>C	XP_006715471.1:p.Tyr8401His
XM_006715409.1:c.25192T>C	XP_006715472.1:p.Tyr8398His
XM_006715410.1:c.25213T>C	XP_006715473.1:p.Tyr8405His
XM_006715411.1:c.25162T>C	XP_006715474.1:p.Tyr8388His
XM_006715412.1:c.25198T>C	XP_006715475.1:p.Tyr8400His
XM_006715413.1:c.25144T>C	XP_006715476.1:p.Tyr8382His
XM_006715414.1:c.25141T>C	XP_006715477.1:p.Tyr8381His
XM_006715415.1:c.25144T>C	XP_006715478.1:p.Tyr8382His
XM_006715416.1:c.25129T>C	XP_006715479.1:p.Tyr8377His
XM_006715417.1:c.25072T>C	XP_006715480.1:p.Tyr8358His
XM_006715420.1:c.25060T>C	XP_006715483.1:p.Tyr8354His
XM_006715421.1:c.25057T>C	XP_006715484.1:p.Tyr8353His
XM_006715422.1:c.25054T>C	XP_006715485.1:p.Tyr8352His
XM_006715423.1:c.25213T>C	XP_006715486.1:p.Tyr8405His
XM_006715424.1:c.25213T>C	XP_006715487.1:p.Tyr8405His
XM_006715425.1:c.25144T>C	XP_006715488.1:p.Tyr8382His
XM_011535641.1:c.25210T>C	XP_011533943.1:p.Tyr8404His
XM_011535642.1:c.25198T>C	XP_011533944.1:p.Tyr8400His
XM_011535643.1:c.25048T>C	XP_011533945.1:p.Tyr8350His
XM_011535644.1:c.23488T>C	XP_011533946.1:p.Tyr7830His
XM_011535645.1:c.22981T>C	XP_011533947.1:p.Tyr7661His
XM_011535647.1:c.18448T>C	XP_011533949.1:p.Tyr6150His
NM_001347701.1:c.1714T>C	NP_001334630.1:p.Tyr572His
NM_001347702.1:c.1642T>C	NP_001334631.1:p.Tyr548His
XM_006715408.2:c.25201T>C	XP_006715471.1:p.Tyr8401His
XM_006715410.2:c.25213T>C	XP_006715473.1:p.Tyr8405His
XM_006715412.2:c.25198T>C	XP_006715475.1:p.Tyr8400His
XM_006715413.2:c.25144T>C	XP_006715476.1:p.Tyr8382His
XM_006715415.2:c.25144T>C	XP_006715478.1:p.Tyr8382His
XM_006715416.2:c.25129T>C	XP_006715479.1:p.Tyr8377His
XM_006715417.2:c.25072T>C	XP_006715480.1:p.Tyr8358His
XM_006715420.2:c.25060T>C	XP_006715483.1:p.Tyr8354His
XM_006715421.2:c.25057T>C	XP_006715484.1:p.Tyr8353His
XM_006715423.2:c.25213T>C	XP_006715486.1:p.Tyr8405His
XM_006715424.2:c.25213T>C	XP_006715487.1:p.Tyr8405His
XM_006715425.2:c.25144T>C	XP_006715488.1:p.Tyr8382His
XM_011535641.2:c.25210T>C	XP_011533943.1:p.Tyr8404His
XM_011535642.2:c.25198T>C	XP_011533944.1:p.Tyr8400His
XM_011535645.2:c.22981T>C	XP_011533947.1:p.Tyr7661His
XM_017010608.1:c.25213T>C	XP_016866097.1:p.Tyr8405His
XM_017010609.1:c.25213T>C	XP_016866098.1:p.Tyr8405His
XM_017010610.1:c.25192T>C	XP_016866099.1:p.Tyr8398His
XM_017010611.2:c.25186T>C	XP_016866100.1:p.Tyr8396His
XM_017010612.1:c.25135T>C	XP_016866101.1:p.Tyr8379His
XM_017010613.1:c.25141T>C	XP_016866102.1:p.Tyr8381His
XM_017010614.1:c.25057T>C	XP_016866103.1:p.Tyr8353His
XM_017010615.1:c.24988T>C	XP_016866104.1:p.Tyr8330His
XM_017010616.1:c.25144T>C	XP_016866105.1:p.Tyr8382His
XM_017010617.1:c.25141T>C	XP_016866106.1:p.Tyr8381His
XM_017010618.1:c.25129T>C	XP_016866107.1:p.Tyr8377His
XM_017010619.1:c.23488T>C	XP_016866108.1:p.Tyr7830His
NM_182961.4:c.25108T>C MANE Select	NP_892006.3:p.Tyr8370His
NM_001347701.2:c.1714T>C	NP_001334630.1:p.Tyr572His
NM_001347702.2:c.1642T>C MANE Plus Clinical	NP_001334631.1:p.Tyr548His
NM_033071.5:c.24964T>C	NP_149062.2:p.Tyr8322His