Canonical Allele Identifier: CA2680812888

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152139864-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139864C>A , CM000668.2:g.152139864C>A	GRCh38
NC_000006.11:g.152460999C>A , CM000668.1:g.152460999C>A	GRCh37
NC_000006.10:g.152502692C>A	NCBI36
NG_012855.1:g.502536G>T
NG_012855.2:g.502536G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1992+86G>T MANE Plus Clinical	ENSP00000346701.4:n.1992+86G>T
ENST00000367255.10:c.25458+86G>T MANE Select	ENSP00000356224.5:n.25458+86G>T
ENST00000423061.6:c.25314+86G>T	ENSP00000396024.1:n.25314+86G>T
ENST00000672154.1:c.860+86G>T
ENST00000672169.1:c.1193+86G>T
ENST00000673173.1:c.1102+86G>T
ENST00000673451.1:c.1230+86G>T	ENSP00000500189.1:n.1230+86G>T
ENST00000341594.9:c.24243+86G>T	ENSP00000341887.6:n.24243+86G>T
ENST00000347037.9:n.2206+86G>T
ENST00000354674.4:c.1992+86G>T	ENSP00000346701.4:n.1992+86G>T
ENST00000367251.7:c.4293+86G>T	ENSP00000356220.3:n.4293+86G>T
ENST00000367255.9:c.25458+86G>T	ENSP00000356224.5:n.25458+86G>T
ENST00000367256.9:n.9150+86G>T
ENST00000367257.8:c.3396+86G>T	ENSP00000356226.4:n.3396+86G>T
ENST00000409694.6:n.9042+86G>T
ENST00000423061.5:c.25314+86G>T	ENSP00000396024.1:n.25314+86G>T
ENST00000460912.6:n.2072+86G>T
ENST00000478916.5:n.4480+86G>T
ENST00000536990.5:n.2295+86G>T
ENST00000539504.5:c.1923+86G>T	ENSP00000441052.1:n.1923+86G>T
NM_033071.3:c.25314+86G>T	NP_149062.1:n.25314+86G>T
NM_182961.3:c.25458+86G>T	NP_892006.3:n.25458+86G>T
XM_006715407.1:c.25563+86G>T	XP_006715470.1:n.25563+86G>T
XM_006715408.1:c.25551+86G>T	XP_006715471.1:n.25551+86G>T
XM_006715409.1:c.25542+86G>T	XP_006715472.1:n.25542+86G>T
XM_006715410.1:c.25563+86G>T	XP_006715473.1:n.25563+86G>T
XM_006715411.1:c.25512+86G>T	XP_006715474.1:n.25512+86G>T
XM_006715412.1:c.25548+86G>T	XP_006715475.1:n.25548+86G>T
XM_006715413.1:c.25494+86G>T	XP_006715476.1:n.25494+86G>T
XM_006715414.1:c.25491+86G>T	XP_006715477.1:n.25491+86G>T
XM_006715415.1:c.25494+86G>T	XP_006715478.1:n.25494+86G>T
XM_006715416.1:c.25479+86G>T	XP_006715479.1:n.25479+86G>T
XM_006715417.1:c.25422+86G>T	XP_006715480.1:n.25422+86G>T
XM_006715420.1:c.25410+86G>T	XP_006715483.1:n.25410+86G>T
XM_006715421.1:c.25407+86G>T	XP_006715484.1:n.25407+86G>T
XM_006715422.1:c.25404+86G>T	XP_006715485.1:n.25404+86G>T
XM_006715423.1:c.25563+86G>T	XP_006715486.1:n.25563+86G>T
XM_006715424.1:c.25563+86G>T	XP_006715487.1:n.25563+86G>T
XM_006715425.1:c.25494+86G>T	XP_006715488.1:n.25494+86G>T
XM_011535641.1:c.25560+86G>T	XP_011533943.1:n.25560+86G>T
XM_011535642.1:c.25548+86G>T	XP_011533944.1:n.25548+86G>T
XM_011535643.1:c.25398+86G>T	XP_011533945.1:n.25398+86G>T
XM_011535644.1:c.23838+86G>T	XP_011533946.1:n.23838+86G>T
XM_011535645.1:c.23331+86G>T	XP_011533947.1:n.23331+86G>T
XM_011535647.1:c.18798+86G>T	XP_011533949.1:n.18798+86G>T
NM_001347701.1:c.2064+86G>T	NP_001334630.1:n.2064+86G>T
NM_001347702.1:c.1992+86G>T	NP_001334631.1:n.1992+86G>T
XM_006715408.2:c.25551+86G>T	XP_006715471.1:n.25551+86G>T
XM_006715410.2:c.25563+86G>T	XP_006715473.1:n.25563+86G>T
XM_006715412.2:c.25548+86G>T	XP_006715475.1:n.25548+86G>T
XM_006715413.2:c.25494+86G>T	XP_006715476.1:n.25494+86G>T
XM_006715415.2:c.25494+86G>T	XP_006715478.1:n.25494+86G>T
XM_006715416.2:c.25479+86G>T	XP_006715479.1:n.25479+86G>T
XM_006715417.2:c.25422+86G>T	XP_006715480.1:n.25422+86G>T
XM_006715420.2:c.25410+86G>T	XP_006715483.1:n.25410+86G>T
XM_006715421.2:c.25407+86G>T	XP_006715484.1:n.25407+86G>T
XM_006715423.2:c.25563+86G>T	XP_006715486.1:n.25563+86G>T
XM_006715424.2:c.25563+86G>T	XP_006715487.1:n.25563+86G>T
XM_006715425.2:c.25494+86G>T	XP_006715488.1:n.25494+86G>T
XM_011535641.2:c.25560+86G>T	XP_011533943.1:n.25560+86G>T
XM_011535642.2:c.25548+86G>T	XP_011533944.1:n.25548+86G>T
XM_011535645.2:c.23331+86G>T	XP_011533947.1:n.23331+86G>T
XM_017010608.1:c.25563+86G>T	XP_016866097.1:n.25563+86G>T
XM_017010609.1:c.25563+86G>T	XP_016866098.1:n.25563+86G>T
XM_017010610.1:c.25542+86G>T	XP_016866099.1:n.25542+86G>T
XM_017010611.2:c.25536+86G>T	XP_016866100.1:n.25536+86G>T
XM_017010612.1:c.25485+86G>T	XP_016866101.1:n.25485+86G>T
XM_017010613.1:c.25491+86G>T	XP_016866102.1:n.25491+86G>T
XM_017010614.1:c.25407+86G>T	XP_016866103.1:n.25407+86G>T
XM_017010615.1:c.25338+86G>T	XP_016866104.1:n.25338+86G>T
XM_017010616.1:c.25494+86G>T	XP_016866105.1:n.25494+86G>T
XM_017010617.1:c.25491+86G>T	XP_016866106.1:n.25491+86G>T
XM_017010618.1:c.25479+86G>T	XP_016866107.1:n.25479+86G>T
XM_017010619.1:c.23838+86G>T	XP_016866108.1:n.23838+86G>T
NM_182961.4:c.25458+86G>T MANE Select	NP_892006.3:n.25458+86G>T
NM_001347701.2:c.2064+86G>T	NP_001334630.1:n.2064+86G>T
NM_001347702.2:c.1992+86G>T MANE Plus Clinical	NP_001334631.1:n.1992+86G>T
NM_033071.5:c.25314+86G>T	NP_149062.2:n.25314+86G>T