Linked Data
ClinVar Variation Id:
520684
ClinVar RCV Id:
RCV000622563
dbSNP Id:
rs1202804312
gnomAD v2:
19-14270952-C-T
gnomAD v4:
19-14160140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14160140C>T , CM000681.2:g.14160140C>T | GRCh38 |
| NC_000019.9:g.14270952C>T , CM000681.1:g.14270952C>T | GRCh37 |
| NC_000019.8:g.14131952C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361434.8:c.1772G>A (ADGRL1) MANE Select | ENSP00000355328.2:p.Arg591His | |
| ENST00000340736.10:c.1787G>A (ADGRL1) | ENSP00000340688.5:p.Arg596His | |
| ENST00000361434.7:c.1772G>A (ADGRL1) | ENSP00000355328.2:p.Arg591His | |
| ENST00000588677.1:n.441G>A (ADGRL1) | ||
| ENST00000589616.1:c.383G>A (ADGRL1) | ENSP00000468711.1:p.Arg128His | |
| NM_001008701.2:c.1787G>A (ADGRL1) | NP_001008701.1:p.Arg596His | |
| NM_014921.4:c.1772G>A (ADGRL1) | NP_055736.2:p.Arg591His | |
| NR_045214.1:n.400+4661C>T (ADGRL1-AS1) | ||
| XM_005259818.2:c.1772G>A (ADGRL1) | XP_005259875.1:p.Arg591His | |
| XM_005259819.2:c.1787G>A (ADGRL1) | XP_005259876.1:p.Arg596His | |
| XM_011527796.1:c.1808G>A (ADGRL1) | XP_011526098.1:p.Arg603His | |
| XM_011527797.1:c.1808G>A (ADGRL1) | XP_011526099.1:p.Arg603His | |
| XM_011527798.1:c.1793G>A (ADGRL1) | XP_011526100.1:p.Arg598His | |
| XM_011527799.1:c.1808G>A (ADGRL1) | XP_011526101.1:p.Arg603His | |
| XM_011527800.1:c.1808G>A (ADGRL1) | XP_011526102.1:p.Arg603His | |
| XM_011527801.1:c.1568G>A (ADGRL1) | XP_011526103.1:p.Arg523His | |
| XM_011527802.1:c.1808G>A (ADGRL1) | XP_011526104.1:p.Arg603His | |
| XM_005259818.3:c.1772G>A (ADGRL1) | XP_005259875.1:p.Arg591His | |
| XM_011527796.2:c.1808G>A (ADGRL1) | XP_011526098.1:p.Arg603His | |
| XM_011527798.2:c.1793G>A (ADGRL1) | XP_011526100.1:p.Arg598His | |
| XM_011527801.2:c.1568G>A (ADGRL1) | XP_011526103.1:p.Arg523His | |
| XM_017026475.1:c.1811G>A (ADGRL1) | XP_016881964.1:p.Arg604His | |
| XM_017026476.1:c.1811G>A (ADGRL1) | XP_016881965.1:p.Arg604His | |
| XM_017026477.1:c.1790G>A (ADGRL1) | XP_016881966.1:p.Arg597His | |
| XM_017026478.1:c.1811G>A (ADGRL1) | XP_016881967.1:p.Arg604His | |
| XM_017026479.1:c.1811G>A (ADGRL1) | XP_016881968.1:p.Arg604His | |
| XM_017026480.1:c.1553G>A (ADGRL1) | XP_016881969.1:p.Arg518His | |
| XM_017026481.1:c.1811G>A (ADGRL1) | XP_016881970.1:p.Arg604His | |
| XM_024451420.1:c.1811G>A (ADGRL1) | XP_024307188.1:p.Arg604His | |
| NM_001008701.3:c.1787G>A (ADGRL1) | NP_001008701.1:p.Arg596His | |
| NM_014921.5:c.1772G>A (ADGRL1) MANE Select | NP_055736.2:p.Arg591His |