Linked Data
dbSNP Id:
rs10235056
ExAC:
7:1132748 G / A
gnomAD v2:
7-1132748-G-A
gnomAD v3:
7-1093112-G-A
gnomAD v4:
7-1093112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1093112G>A , CM000669.2:g.1093112G>A | GRCh38 |
| NC_000007.13:g.1132748G>A , CM000669.1:g.1132748G>A | GRCh37 |
| NC_000007.12:g.1099274G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397088.4:c.*256G>A (GPER1) MANE Select | ENSP00000380277.3:n.*256G>A | |
| ENST00000397098.8:c.129+34145C>T (C7orf50) MANE Select | ENSP00000380286.3:n.129+34145C>T | |
| ENST00000297469.3:c.*256G>A (GPER1) | ENSP00000297469.3:n.*256G>A | |
| ENST00000357429.10:c.129+34145C>T (C7orf50) | ENSP00000350011.5:n.129+34145C>T | |
| ENST00000397088.3:c.*256G>A (GPER1) | ENSP00000380277.3:n.*256G>A | |
| ENST00000397092.5:c.*256G>A (GPER1) | ENSP00000380281.1:n.*256G>A | |
| ENST00000397098.7:c.129+34145C>T (C7orf50) | ENSP00000380286.3:n.129+34145C>T | |
| ENST00000397100.6:c.129+34145C>T (C7orf50) | ENSP00000380288.2:n.129+34145C>T | |
| ENST00000488073.1:n.266+16216C>T (C7orf50) | ||
| ENST00000491163.1:c.129+34145C>T (C7orf50) | ENSP00000420130.1:n.129+34145C>T | |
| ENST00000617001.1:c.1102G>A (GPER1) | ENSP00000479553.1:p.Gly368Ser | |
| ENST00000619052.1:c.175G>A (GPER1) | ENSP00000483756.1:p.Gly59Ser | |
| NM_001039966.1:c.*256G>A (GPER1) | NP_001035055.1:n.*256G>A | |
| NM_001098201.1:c.*256G>A (GPER1) | NP_001091671.1:n.*256G>A | |
| NM_001134395.1:c.129+34145C>T (C7orf50) | NP_001127867.1:n.129+34145C>T | |
| NM_001134396.1:c.129+34145C>T (C7orf50) | NP_001127868.1:n.129+34145C>T | |
| NM_001505.2:c.*256G>A (GPER1) | NP_001496.1:n.*256G>A | |
| NM_032350.5:c.129+34145C>T (C7orf50) | NP_115726.1:n.129+34145C>T | |
| XM_005249888.3:c.129+34145C>T (C7orf50) | XP_005249945.1:n.129+34145C>T | |
| XM_011515581.1:c.129+34145C>T (C7orf50) | XP_011513883.1:n.129+34145C>T | |
| XM_011515582.1:c.129+34145C>T (C7orf50) | XP_011513884.1:n.129+34145C>T | |
| XM_011515583.1:c.129+34145C>T (C7orf50) | XP_011513885.1:n.129+34145C>T | |
| XM_011515584.1:c.129+34145C>T (C7orf50) | XP_011513886.1:n.129+34145C>T | |
| NM_001098201.2:c.*256G>A (GPER1) | NP_001091671.1:n.*256G>A | |
| NM_001318252.1:c.129+34145C>T (C7orf50) | NP_001305181.1:n.129+34145C>T | |
| NM_001350968.1:c.129+34145C>T (C7orf50) | NP_001337897.1:n.129+34145C>T | |
| XM_011515581.3:c.129+34145C>T (C7orf50) | XP_011513883.1:n.129+34145C>T | |
| XM_011515582.3:c.129+34145C>T (C7orf50) | XP_011513884.1:n.129+34145C>T | |
| XM_011515583.2:c.129+34145C>T (C7orf50) | XP_011513885.1:n.129+34145C>T | |
| XM_011515584.2:c.129+34145C>T (C7orf50) | XP_011513886.1:n.129+34145C>T | |
| XM_017012720.2:c.129+34145C>T (C7orf50) | XP_016868209.1:n.129+34145C>T | |
| XM_017012721.2:c.-145+34145C>T (C7orf50) | XP_016868210.1:n.-145+34145C>T | |
| XM_024446977.1:c.129+34145C>T (C7orf50) | XP_024302745.1:n.129+34145C>T | |
| XM_024446978.1:c.-145+34145C>T (C7orf50) | XP_024302746.1:n.-145+34145C>T | |
| NM_001098201.3:c.*256G>A (GPER1) MANE Select | NP_001091671.1:n.*256G>A | |
| NM_001318252.2:c.129+34145C>T (C7orf50) MANE Select | NP_001305181.1:n.129+34145C>T | |
| NM_001505.3:c.*256G>A (GPER1) | NP_001496.1:n.*256G>A | |
| NM_001039966.2:c.*256G>A (GPER1) | NP_001035055.1:n.*256G>A |