Linked Data
dbSNP Id:
rs766438191
ExAC:
6:152443584 G / C
gnomAD v2:
6-152443584-G-C
gnomAD v3:
6-152122449-G-C
gnomAD v4:
6-152122449-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122449G>C , CM000668.2:g.152122449G>C | GRCh38 |
| NC_000006.11:g.152443584G>C , CM000668.1:g.152443584G>C | GRCh37 |
| NC_000006.10:g.152485277G>C | NCBI36 |
| NG_012855.1:g.519951C>G | |
| NG_008493.2:g.470759G>C | |
| NG_012855.2:g.519951C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2915C>G (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Pro972Arg | |
| ENST00000367255.10:c.26381C>G (SYNE1) MANE Select | ENSP00000356224.5:p.Pro8794Arg | |
| ENST00000423061.6:c.26237C>G (SYNE1) | ENSP00000396024.1:p.Pro8746Arg | |
| ENST00000672154.1:c.1724C>G (SYNE1) | ||
| ENST00000672169.1:c.2099C>G (SYNE1) | ||
| ENST00000673173.1:c.1966C>G (SYNE1) | ||
| ENST00000673451.1:c.2231C>G (SYNE1) | ENSP00000500189.1:n.2231C>G | |
| ENST00000341594.9:c.25166C>G (SYNE1) | ENSP00000341887.6:p.Pro8389Arg | |
| ENST00000347037.9:n.3129C>G (SYNE1) | ||
| ENST00000354674.4:c.2915C>G (SYNE1) | ENSP00000346701.4:p.Pro972Arg | |
| ENST00000367251.7:c.5157C>G (SYNE1) | ENSP00000356220.3:n.5157C>G | |
| ENST00000367255.9:c.26381C>G (SYNE1) | ENSP00000356224.5:p.Pro8794Arg | |
| ENST00000367256.9:n.10073C>G (SYNE1) | ||
| ENST00000367257.8:c.4260C>G (SYNE1) | ENSP00000356226.4:n.4260C>G | |
| ENST00000409694.6:n.9965C>G (SYNE1) | ||
| ENST00000423061.5:c.26237C>G (SYNE1) | ENSP00000396024.1:p.Pro8746Arg | |
| ENST00000427531.6:c.851-2817G>C (ESR1) | ENSP00000394721.2:n.851-2817G>C | |
| ENST00000460912.6:n.2995C>G (SYNE1) | ||
| ENST00000478916.5:n.7018C>G (SYNE1) | ||
| ENST00000539504.5:c.2846C>G (SYNE1) | ENSP00000441052.1:p.Pro949Arg | |
| NM_033071.3:c.26237C>G (SYNE1) | NP_149062.1:p.Pro8746Arg | |
| NM_182961.3:c.26381C>G (SYNE1) | NP_892006.3:p.Pro8794Arg | |
| XM_006715407.1:c.26528C>G (SYNE1) | XP_006715470.1:p.Pro8843Arg | |
| XM_006715408.1:c.26516C>G (SYNE1) | XP_006715471.1:p.Pro8839Arg | |
| XM_006715409.1:c.26507C>G (SYNE1) | XP_006715472.1:p.Pro8836Arg | |
| XM_006715410.1:c.26486C>G (SYNE1) | XP_006715473.1:p.Pro8829Arg | |
| XM_006715411.1:c.26477C>G (SYNE1) | XP_006715474.1:p.Pro8826Arg | |
| XM_006715412.1:c.26471C>G (SYNE1) | XP_006715475.1:p.Pro8824Arg | |
| XM_006715413.1:c.26459C>G (SYNE1) | XP_006715476.1:p.Pro8820Arg | |
| XM_006715414.1:c.26456C>G (SYNE1) | XP_006715477.1:p.Pro8819Arg | |
| XM_006715415.1:c.26417C>G (SYNE1) | XP_006715478.1:p.Pro8806Arg | |
| XM_006715416.1:c.26402C>G (SYNE1) | XP_006715479.1:p.Pro8801Arg | |
| XM_006715417.1:c.26387C>G (SYNE1) | XP_006715480.1:p.Pro8796Arg | |
| XM_006715420.1:c.26375C>G (SYNE1) | XP_006715483.1:p.Pro8792Arg | |
| XM_006715421.1:c.26372C>G (SYNE1) | XP_006715484.1:p.Pro8791Arg | |
| XM_006715422.1:c.26369C>G (SYNE1) | XP_006715485.1:p.Pro8790Arg | |
| XM_006715423.1:c.*192C>G (SYNE1) | XP_006715486.1:n.*192C>G | |
| XM_006715424.1:c.*192C>G (SYNE1) | XP_006715487.1:n.*192C>G | |
| XM_006715425.1:c.*192C>G (SYNE1) | XP_006715488.1:n.*192C>G | |
| XM_011535641.1:c.26525C>G (SYNE1) | XP_011533943.1:p.Pro8842Arg | |
| XM_011535642.1:c.26513C>G (SYNE1) | XP_011533944.1:p.Pro8838Arg | |
| XM_011535643.1:c.26363C>G (SYNE1) | XP_011533945.1:p.Pro8788Arg | |
| XM_011535644.1:c.24803C>G (SYNE1) | XP_011533946.1:p.Pro8268Arg | |
| XM_011535645.1:c.24296C>G (SYNE1) | XP_011533947.1:p.Pro8099Arg | |
| XM_011535647.1:c.19763C>G (SYNE1) | XP_011533949.1:p.Pro6588Arg | |
| NM_001328100.1:c.851-2817G>C (ESR1) | NP_001315029.1:n.851-2817G>C | |
| NM_001347701.1:c.*192C>G (SYNE1) | NP_001334630.1:n.*192C>G | |
| NM_001347702.1:c.2915C>G (SYNE1) | NP_001334631.1:p.Pro972Arg | |
| XM_006715408.2:c.26516C>G (SYNE1) | XP_006715471.1:p.Pro8839Arg | |
| XM_006715410.2:c.26486C>G (SYNE1) | XP_006715473.1:p.Pro8829Arg | |
| XM_006715412.2:c.26471C>G (SYNE1) | XP_006715475.1:p.Pro8824Arg | |
| XM_006715413.2:c.26459C>G (SYNE1) | XP_006715476.1:p.Pro8820Arg | |
| XM_006715415.2:c.26417C>G (SYNE1) | XP_006715478.1:p.Pro8806Arg | |
| XM_006715416.2:c.26402C>G (SYNE1) | XP_006715479.1:p.Pro8801Arg | |
| XM_006715417.2:c.26387C>G (SYNE1) | XP_006715480.1:p.Pro8796Arg | |
| XM_006715420.2:c.26375C>G (SYNE1) | XP_006715483.1:p.Pro8792Arg | |
| XM_006715421.2:c.26372C>G (SYNE1) | XP_006715484.1:p.Pro8791Arg | |
| XM_006715423.2:c.*192C>G (SYNE1) | XP_006715486.1:n.*192C>G | |
| XM_006715424.2:c.*192C>G (SYNE1) | XP_006715487.1:n.*192C>G | |
| XM_006715425.2:c.*192C>G (SYNE1) | XP_006715488.1:n.*192C>G | |
| XM_011535641.2:c.26525C>G (SYNE1) | XP_011533943.1:p.Pro8842Arg | |
| XM_011535642.2:c.26513C>G (SYNE1) | XP_011533944.1:p.Pro8838Arg | |
| XM_011535645.2:c.24296C>G (SYNE1) | XP_011533947.1:p.Pro8099Arg | |
| XM_017010608.1:c.26528C>G (SYNE1) | XP_016866097.1:p.Pro8843Arg | |
| XM_017010609.1:c.26528C>G (SYNE1) | XP_016866098.1:p.Pro8843Arg | |
| XM_017010610.1:c.26507C>G (SYNE1) | XP_016866099.1:p.Pro8836Arg | |
| XM_017010611.2:c.26501C>G (SYNE1) | XP_016866100.1:p.Pro8834Arg | |
| XM_017010612.1:c.26450C>G (SYNE1) | XP_016866101.1:p.Pro8817Arg | |
| XM_017010613.1:c.26414C>G (SYNE1) | XP_016866102.1:p.Pro8805Arg | |
| XM_017010614.1:c.26372C>G (SYNE1) | XP_016866103.1:p.Pro8791Arg | |
| XM_017010615.1:c.26261C>G (SYNE1) | XP_016866104.1:p.Pro8754Arg | |
| XM_017010616.1:c.*192C>G (SYNE1) | XP_016866105.1:n.*192C>G | |
| XM_017010617.1:c.*192C>G (SYNE1) | XP_016866106.1:n.*192C>G | |
| XM_017010618.1:c.*192C>G (SYNE1) | XP_016866107.1:n.*192C>G | |
| XM_017010619.1:c.24803C>G (SYNE1) | XP_016866108.1:p.Pro8268Arg | |
| NM_182961.4:c.26381C>G (SYNE1) MANE Select | NP_892006.3:p.Pro8794Arg | |
| NM_001328100.2:c.851-2817G>C (ESR1) | NP_001315029.1:n.851-2817G>C | |
| NM_001347701.2:c.*192C>G (SYNE1) | NP_001334630.1:n.*192C>G | |
| NM_001347702.2:c.2915C>G (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Pro972Arg | |
| NM_033071.5:c.26237C>G (SYNE1) | NP_149062.2:p.Pro8746Arg |