UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
MyVariant Identifiers:
chr6:g.152462342C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152141207C>G , CM000668.2:g.152141207C>G | GRCh38 |
| NC_000006.11:g.152462342C>G , CM000668.1:g.152462342C>G | GRCh37 |
| NC_000006.10:g.152504035C>G | NCBI36 |
| NG_012855.1:g.501193G>C | |
| NG_012855.2:g.501193G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1776G>C MANE Plus Clinical | ENSP00000346701.4:p.Thr592= | |
| ENST00000367255.10:c.25242G>C MANE Select | ENSP00000356224.5:p.Thr8414= | |
| ENST00000423061.6:c.25098G>C | ENSP00000396024.1:p.Thr8366= | |
| ENST00000672154.1:c.644G>C | ||
| ENST00000672169.1:c.977G>C | ||
| ENST00000673173.1:c.891-1046G>C | ||
| ENST00000673451.1:c.1014G>C | ENSP00000500189.1:p.Thr338= | |
| ENST00000341594.9:c.24027G>C | ENSP00000341887.6:p.Thr8009= | |
| ENST00000347037.9:n.1990G>C | ||
| ENST00000354674.4:c.1776G>C | ENSP00000346701.4:p.Thr592= | |
| ENST00000367251.7:c.4077G>C | ENSP00000356220.3:p.Thr1359= | |
| ENST00000367255.9:c.25242G>C | ENSP00000356224.5:p.Thr8414= | |
| ENST00000367256.9:n.8934G>C | ||
| ENST00000367257.8:c.3180G>C | ENSP00000356226.4:p.Thr1060= | |
| ENST00000409694.6:n.8826G>C | ||
| ENST00000423061.5:c.25098G>C | ENSP00000396024.1:p.Thr8366= | |
| ENST00000460912.6:n.1856G>C | ||
| ENST00000478916.5:n.4264G>C | ||
| ENST00000536990.5:n.2079G>C | ||
| ENST00000539504.5:c.1707G>C | ENSP00000441052.1:p.Thr569= | |
| NM_033071.3:c.25098G>C | NP_149062.1:p.Thr8366= | |
| NM_182961.3:c.25242G>C | NP_892006.3:p.Thr8414= | |
| XM_006715407.1:c.25347G>C | XP_006715470.1:p.Thr8449= | |
| XM_006715408.1:c.25335G>C | XP_006715471.1:p.Thr8445= | |
| XM_006715409.1:c.25326G>C | XP_006715472.1:p.Thr8442= | |
| XM_006715410.1:c.25347G>C | XP_006715473.1:p.Thr8449= | |
| XM_006715411.1:c.25296G>C | XP_006715474.1:p.Thr8432= | |
| XM_006715412.1:c.25332G>C | XP_006715475.1:p.Thr8444= | |
| XM_006715413.1:c.25278G>C | XP_006715476.1:p.Thr8426= | |
| XM_006715414.1:c.25275G>C | XP_006715477.1:p.Thr8425= | |
| XM_006715415.1:c.25278G>C | XP_006715478.1:p.Thr8426= | |
| XM_006715416.1:c.25263G>C | XP_006715479.1:p.Thr8421= | |
| XM_006715417.1:c.25206G>C | XP_006715480.1:p.Thr8402= | |
| XM_006715420.1:c.25194G>C | XP_006715483.1:p.Thr8398= | |
| XM_006715421.1:c.25191G>C | XP_006715484.1:p.Thr8397= | |
| XM_006715422.1:c.25188G>C | XP_006715485.1:p.Thr8396= | |
| XM_006715423.1:c.25347G>C | XP_006715486.1:p.Thr8449= | |
| XM_006715424.1:c.25347G>C | XP_006715487.1:p.Thr8449= | |
| XM_006715425.1:c.25278G>C | XP_006715488.1:p.Thr8426= | |
| XM_011535641.1:c.25344G>C | XP_011533943.1:p.Thr8448= | |
| XM_011535642.1:c.25332G>C | XP_011533944.1:p.Thr8444= | |
| XM_011535643.1:c.25182G>C | XP_011533945.1:p.Thr8394= | |
| XM_011535644.1:c.23622G>C | XP_011533946.1:p.Thr7874= | |
| XM_011535645.1:c.23115G>C | XP_011533947.1:p.Thr7705= | |
| XM_011535647.1:c.18582G>C | XP_011533949.1:p.Thr6194= | |
| NM_001347701.1:c.1848G>C | NP_001334630.1:p.Thr616= | |
| NM_001347702.1:c.1776G>C | NP_001334631.1:p.Thr592= | |
| XM_006715408.2:c.25335G>C | XP_006715471.1:p.Thr8445= | |
| XM_006715410.2:c.25347G>C | XP_006715473.1:p.Thr8449= | |
| XM_006715412.2:c.25332G>C | XP_006715475.1:p.Thr8444= | |
| XM_006715413.2:c.25278G>C | XP_006715476.1:p.Thr8426= | |
| XM_006715415.2:c.25278G>C | XP_006715478.1:p.Thr8426= | |
| XM_006715416.2:c.25263G>C | XP_006715479.1:p.Thr8421= | |
| XM_006715417.2:c.25206G>C | XP_006715480.1:p.Thr8402= | |
| XM_006715420.2:c.25194G>C | XP_006715483.1:p.Thr8398= | |
| XM_006715421.2:c.25191G>C | XP_006715484.1:p.Thr8397= | |
| XM_006715423.2:c.25347G>C | XP_006715486.1:p.Thr8449= | |
| XM_006715424.2:c.25347G>C | XP_006715487.1:p.Thr8449= | |
| XM_006715425.2:c.25278G>C | XP_006715488.1:p.Thr8426= | |
| XM_011535641.2:c.25344G>C | XP_011533943.1:p.Thr8448= | |
| XM_011535642.2:c.25332G>C | XP_011533944.1:p.Thr8444= | |
| XM_011535645.2:c.23115G>C | XP_011533947.1:p.Thr7705= | |
| XM_017010608.1:c.25347G>C | XP_016866097.1:p.Thr8449= | |
| XM_017010609.1:c.25347G>C | XP_016866098.1:p.Thr8449= | |
| XM_017010610.1:c.25326G>C | XP_016866099.1:p.Thr8442= | |
| XM_017010611.2:c.25320G>C | XP_016866100.1:p.Thr8440= | |
| XM_017010612.1:c.25269G>C | XP_016866101.1:p.Thr8423= | |
| XM_017010613.1:c.25275G>C | XP_016866102.1:p.Thr8425= | |
| XM_017010614.1:c.25191G>C | XP_016866103.1:p.Thr8397= | |
| XM_017010615.1:c.25122G>C | XP_016866104.1:p.Thr8374= | |
| XM_017010616.1:c.25278G>C | XP_016866105.1:p.Thr8426= | |
| XM_017010617.1:c.25275G>C | XP_016866106.1:p.Thr8425= | |
| XM_017010618.1:c.25263G>C | XP_016866107.1:p.Thr8421= | |
| XM_017010619.1:c.23622G>C | XP_016866108.1:p.Thr7874= | |
| NM_182961.4:c.25242G>C MANE Select | NP_892006.3:p.Thr8414= | |
| NM_001347701.2:c.1848G>C | NP_001334630.1:p.Thr616= | |
| NM_001347702.2:c.1776G>C MANE Plus Clinical | NP_001334631.1:p.Thr592= | |
| NM_033071.5:c.25098G>C | NP_149062.2:p.Thr8366= |