Canonical Allele Identifier: CA366080677

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461234G>T (hg19) ; chr6:g.152140099G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140099G>T , CM000668.2:g.152140099G>T	GRCh38
NC_000006.11:g.152461234G>T , CM000668.1:g.152461234G>T	GRCh37
NC_000006.10:g.152502927G>T	NCBI36
NG_012855.1:g.502301C>A
NG_012855.2:g.502301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1843C>A MANE Plus Clinical	ENSP00000346701.4:p.Gln615Lys
ENST00000367255.10:c.25309C>A MANE Select	ENSP00000356224.5:p.Gln8437Lys
ENST00000423061.6:c.25165C>A	ENSP00000396024.1:p.Gln8389Lys
ENST00000672154.1:c.711C>A
ENST00000672169.1:c.1044C>A
ENST00000673173.1:c.953C>A
ENST00000673451.1:c.1081C>A	ENSP00000500189.1:p.Gln361Lys
ENST00000341594.9:c.24094C>A	ENSP00000341887.6:p.Gln8032Lys
ENST00000347037.9:n.2057C>A
ENST00000354674.4:c.1843C>A	ENSP00000346701.4:p.Gln615Lys
ENST00000367251.7:c.4144C>A	ENSP00000356220.3:p.Gln1382Lys
ENST00000367255.9:c.25309C>A	ENSP00000356224.5:p.Gln8437Lys
ENST00000367256.9:n.9001C>A
ENST00000367257.8:c.3247C>A	ENSP00000356226.4:p.Gln1083Lys
ENST00000409694.6:n.8893C>A
ENST00000423061.5:c.25165C>A	ENSP00000396024.1:p.Gln8389Lys
ENST00000460912.6:n.1923C>A
ENST00000478916.5:n.4331C>A
ENST00000536990.5:n.2146C>A
ENST00000539504.5:c.1774C>A	ENSP00000441052.1:p.Gln592Lys
NM_033071.3:c.25165C>A	NP_149062.1:p.Gln8389Lys
NM_182961.3:c.25309C>A	NP_892006.3:p.Gln8437Lys
XM_006715407.1:c.25414C>A	XP_006715470.1:p.Gln8472Lys
XM_006715408.1:c.25402C>A	XP_006715471.1:p.Gln8468Lys
XM_006715409.1:c.25393C>A	XP_006715472.1:p.Gln8465Lys
XM_006715410.1:c.25414C>A	XP_006715473.1:p.Gln8472Lys
XM_006715411.1:c.25363C>A	XP_006715474.1:p.Gln8455Lys
XM_006715412.1:c.25399C>A	XP_006715475.1:p.Gln8467Lys
XM_006715413.1:c.25345C>A	XP_006715476.1:p.Gln8449Lys
XM_006715414.1:c.25342C>A	XP_006715477.1:p.Gln8448Lys
XM_006715415.1:c.25345C>A	XP_006715478.1:p.Gln8449Lys
XM_006715416.1:c.25330C>A	XP_006715479.1:p.Gln8444Lys
XM_006715417.1:c.25273C>A	XP_006715480.1:p.Gln8425Lys
XM_006715420.1:c.25261C>A	XP_006715483.1:p.Gln8421Lys
XM_006715421.1:c.25258C>A	XP_006715484.1:p.Gln8420Lys
XM_006715422.1:c.25255C>A	XP_006715485.1:p.Gln8419Lys
XM_006715423.1:c.25414C>A	XP_006715486.1:p.Gln8472Lys
XM_006715424.1:c.25414C>A	XP_006715487.1:p.Gln8472Lys
XM_006715425.1:c.25345C>A	XP_006715488.1:p.Gln8449Lys
XM_011535641.1:c.25411C>A	XP_011533943.1:p.Gln8471Lys
XM_011535642.1:c.25399C>A	XP_011533944.1:p.Gln8467Lys
XM_011535643.1:c.25249C>A	XP_011533945.1:p.Gln8417Lys
XM_011535644.1:c.23689C>A	XP_011533946.1:p.Gln7897Lys
XM_011535645.1:c.23182C>A	XP_011533947.1:p.Gln7728Lys
XM_011535647.1:c.18649C>A	XP_011533949.1:p.Gln6217Lys
NM_001347701.1:c.1915C>A	NP_001334630.1:p.Gln639Lys
NM_001347702.1:c.1843C>A	NP_001334631.1:p.Gln615Lys
XM_006715408.2:c.25402C>A	XP_006715471.1:p.Gln8468Lys
XM_006715410.2:c.25414C>A	XP_006715473.1:p.Gln8472Lys
XM_006715412.2:c.25399C>A	XP_006715475.1:p.Gln8467Lys
XM_006715413.2:c.25345C>A	XP_006715476.1:p.Gln8449Lys
XM_006715415.2:c.25345C>A	XP_006715478.1:p.Gln8449Lys
XM_006715416.2:c.25330C>A	XP_006715479.1:p.Gln8444Lys
XM_006715417.2:c.25273C>A	XP_006715480.1:p.Gln8425Lys
XM_006715420.2:c.25261C>A	XP_006715483.1:p.Gln8421Lys
XM_006715421.2:c.25258C>A	XP_006715484.1:p.Gln8420Lys
XM_006715423.2:c.25414C>A	XP_006715486.1:p.Gln8472Lys
XM_006715424.2:c.25414C>A	XP_006715487.1:p.Gln8472Lys
XM_006715425.2:c.25345C>A	XP_006715488.1:p.Gln8449Lys
XM_011535641.2:c.25411C>A	XP_011533943.1:p.Gln8471Lys
XM_011535642.2:c.25399C>A	XP_011533944.1:p.Gln8467Lys
XM_011535645.2:c.23182C>A	XP_011533947.1:p.Gln7728Lys
XM_017010608.1:c.25414C>A	XP_016866097.1:p.Gln8472Lys
XM_017010609.1:c.25414C>A	XP_016866098.1:p.Gln8472Lys
XM_017010610.1:c.25393C>A	XP_016866099.1:p.Gln8465Lys
XM_017010611.2:c.25387C>A	XP_016866100.1:p.Gln8463Lys
XM_017010612.1:c.25336C>A	XP_016866101.1:p.Gln8446Lys
XM_017010613.1:c.25342C>A	XP_016866102.1:p.Gln8448Lys
XM_017010614.1:c.25258C>A	XP_016866103.1:p.Gln8420Lys
XM_017010615.1:c.25189C>A	XP_016866104.1:p.Gln8397Lys
XM_017010616.1:c.25345C>A	XP_016866105.1:p.Gln8449Lys
XM_017010617.1:c.25342C>A	XP_016866106.1:p.Gln8448Lys
XM_017010618.1:c.25330C>A	XP_016866107.1:p.Gln8444Lys
XM_017010619.1:c.23689C>A	XP_016866108.1:p.Gln7897Lys
NM_182961.4:c.25309C>A MANE Select	NP_892006.3:p.Gln8437Lys
NM_001347701.2:c.1915C>A	NP_001334630.1:p.Gln639Lys
NM_001347702.2:c.1843C>A MANE Plus Clinical	NP_001334631.1:p.Gln615Lys
NM_033071.5:c.25165C>A	NP_149062.2:p.Gln8389Lys