Linked Data
dbSNP Id:
rs761433571
ExAC:
6:152443572 C / T
gnomAD v2:
6-152443572-C-T
gnomAD v4:
6-152122437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122437C>T , CM000668.2:g.152122437C>T | GRCh38 |
| NC_000006.11:g.152443572C>T , CM000668.1:g.152443572C>T | GRCh37 |
| NC_000006.10:g.152485265C>T | NCBI36 |
| NG_012855.1:g.519963G>A | |
| NG_008493.2:g.470747C>T | |
| NG_012855.2:g.519963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2927G>A (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Ter976= | |
| ENST00000367255.10:c.26393G>A (SYNE1) MANE Select | ENSP00000356224.5:p.Ter8798= | |
| ENST00000423061.6:c.26249G>A (SYNE1) | ENSP00000396024.1:p.Ter8750= | |
| ENST00000672154.1:c.1736G>A (SYNE1) | ||
| ENST00000672169.1:c.2111G>A (SYNE1) | ||
| ENST00000673173.1:c.1978G>A (SYNE1) | ||
| ENST00000673451.1:c.2243G>A (SYNE1) | ENSP00000500189.1:n.2243G>A | |
| ENST00000341594.9:c.25178G>A (SYNE1) | ENSP00000341887.6:p.Ter8393= | |
| ENST00000347037.9:n.3141G>A (SYNE1) | ||
| ENST00000354674.4:c.2927G>A (SYNE1) | ENSP00000346701.4:p.Ter976= | |
| ENST00000367251.7:c.5169G>A (SYNE1) | ENSP00000356220.3:n.5169G>A | |
| ENST00000367255.9:c.26393G>A (SYNE1) | ENSP00000356224.5:p.Ter8798= | |
| ENST00000367256.9:n.10085G>A (SYNE1) | ||
| ENST00000367257.8:c.4272G>A (SYNE1) | ENSP00000356226.4:n.4272G>A | |
| ENST00000409694.6:n.9977G>A (SYNE1) | ||
| ENST00000423061.5:c.26249G>A (SYNE1) | ENSP00000396024.1:p.Ter8750= | |
| ENST00000427531.6:c.851-2829C>T (ESR1) | ENSP00000394721.2:n.851-2829C>T | |
| ENST00000460912.6:n.3007G>A (SYNE1) | ||
| ENST00000478916.5:n.7030G>A (SYNE1) | ||
| ENST00000539504.5:c.2858G>A (SYNE1) | ENSP00000441052.1:p.Ter953= | |
| NM_033071.3:c.26249G>A (SYNE1) | NP_149062.1:p.Ter8750= | |
| NM_182961.3:c.26393G>A (SYNE1) | NP_892006.3:p.Ter8798= | |
| XM_006715407.1:c.26540G>A (SYNE1) | XP_006715470.1:p.Ter8847= | |
| XM_006715408.1:c.26528G>A (SYNE1) | XP_006715471.1:p.Ter8843= | |
| XM_006715409.1:c.26519G>A (SYNE1) | XP_006715472.1:p.Ter8840= | |
| XM_006715410.1:c.26498G>A (SYNE1) | XP_006715473.1:p.Ter8833= | |
| XM_006715411.1:c.26489G>A (SYNE1) | XP_006715474.1:p.Ter8830= | |
| XM_006715412.1:c.26483G>A (SYNE1) | XP_006715475.1:p.Ter8828= | |
| XM_006715413.1:c.26471G>A (SYNE1) | XP_006715476.1:p.Ter8824= | |
| XM_006715414.1:c.26468G>A (SYNE1) | XP_006715477.1:p.Ter8823= | |
| XM_006715415.1:c.26429G>A (SYNE1) | XP_006715478.1:p.Ter8810= | |
| XM_006715416.1:c.26414G>A (SYNE1) | XP_006715479.1:p.Ter8805= | |
| XM_006715417.1:c.26399G>A (SYNE1) | XP_006715480.1:p.Ter8800= | |
| XM_006715420.1:c.26387G>A (SYNE1) | XP_006715483.1:p.Ter8796= | |
| XM_006715421.1:c.26384G>A (SYNE1) | XP_006715484.1:p.Ter8795= | |
| XM_006715422.1:c.26381G>A (SYNE1) | XP_006715485.1:p.Ter8794= | |
| XM_006715423.1:c.*204G>A (SYNE1) | XP_006715486.1:n.*204G>A | |
| XM_006715424.1:c.*204G>A (SYNE1) | XP_006715487.1:n.*204G>A | |
| XM_006715425.1:c.*204G>A (SYNE1) | XP_006715488.1:n.*204G>A | |
| XM_011535641.1:c.26537G>A (SYNE1) | XP_011533943.1:p.Ter8846= | |
| XM_011535642.1:c.26525G>A (SYNE1) | XP_011533944.1:p.Ter8842= | |
| XM_011535643.1:c.26375G>A (SYNE1) | XP_011533945.1:p.Ter8792= | |
| XM_011535644.1:c.24815G>A (SYNE1) | XP_011533946.1:p.Ter8272= | |
| XM_011535645.1:c.24308G>A (SYNE1) | XP_011533947.1:p.Ter8103= | |
| XM_011535647.1:c.19775G>A (SYNE1) | XP_011533949.1:p.Ter6592= | |
| NM_001328100.1:c.851-2829C>T (ESR1) | NP_001315029.1:n.851-2829C>T | |
| NM_001347701.1:c.*204G>A (SYNE1) | NP_001334630.1:n.*204G>A | |
| NM_001347702.1:c.2927G>A (SYNE1) | NP_001334631.1:p.Ter976= | |
| XM_006715408.2:c.26528G>A (SYNE1) | XP_006715471.1:p.Ter8843= | |
| XM_006715410.2:c.26498G>A (SYNE1) | XP_006715473.1:p.Ter8833= | |
| XM_006715412.2:c.26483G>A (SYNE1) | XP_006715475.1:p.Ter8828= | |
| XM_006715413.2:c.26471G>A (SYNE1) | XP_006715476.1:p.Ter8824= | |
| XM_006715415.2:c.26429G>A (SYNE1) | XP_006715478.1:p.Ter8810= | |
| XM_006715416.2:c.26414G>A (SYNE1) | XP_006715479.1:p.Ter8805= | |
| XM_006715417.2:c.26399G>A (SYNE1) | XP_006715480.1:p.Ter8800= | |
| XM_006715420.2:c.26387G>A (SYNE1) | XP_006715483.1:p.Ter8796= | |
| XM_006715421.2:c.26384G>A (SYNE1) | XP_006715484.1:p.Ter8795= | |
| XM_006715423.2:c.*204G>A (SYNE1) | XP_006715486.1:n.*204G>A | |
| XM_006715424.2:c.*204G>A (SYNE1) | XP_006715487.1:n.*204G>A | |
| XM_006715425.2:c.*204G>A (SYNE1) | XP_006715488.1:n.*204G>A | |
| XM_011535641.2:c.26537G>A (SYNE1) | XP_011533943.1:p.Ter8846= | |
| XM_011535642.2:c.26525G>A (SYNE1) | XP_011533944.1:p.Ter8842= | |
| XM_011535645.2:c.24308G>A (SYNE1) | XP_011533947.1:p.Ter8103= | |
| XM_017010608.1:c.26540G>A (SYNE1) | XP_016866097.1:p.Ter8847= | |
| XM_017010609.1:c.26540G>A (SYNE1) | XP_016866098.1:p.Ter8847= | |
| XM_017010610.1:c.26519G>A (SYNE1) | XP_016866099.1:p.Ter8840= | |
| XM_017010611.2:c.26513G>A (SYNE1) | XP_016866100.1:p.Ter8838= | |
| XM_017010612.1:c.26462G>A (SYNE1) | XP_016866101.1:p.Ter8821= | |
| XM_017010613.1:c.26426G>A (SYNE1) | XP_016866102.1:p.Ter8809= | |
| XM_017010614.1:c.26384G>A (SYNE1) | XP_016866103.1:p.Ter8795= | |
| XM_017010615.1:c.26273G>A (SYNE1) | XP_016866104.1:p.Ter8758= | |
| XM_017010616.1:c.*204G>A (SYNE1) | XP_016866105.1:n.*204G>A | |
| XM_017010617.1:c.*204G>A (SYNE1) | XP_016866106.1:n.*204G>A | |
| XM_017010618.1:c.*204G>A (SYNE1) | XP_016866107.1:n.*204G>A | |
| XM_017010619.1:c.24815G>A (SYNE1) | XP_016866108.1:p.Ter8272= | |
| NM_182961.4:c.26393G>A (SYNE1) MANE Select | NP_892006.3:p.Ter8798= | |
| NM_001328100.2:c.851-2829C>T (ESR1) | NP_001315029.1:n.851-2829C>T | |
| NM_001347701.2:c.*204G>A (SYNE1) | NP_001334630.1:n.*204G>A | |
| NM_001347702.2:c.2927G>A (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Ter976= | |
| NM_033071.5:c.26249G>A (SYNE1) | NP_149062.2:p.Ter8750= |