Canonical Allele Identifier: CA2674576190
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90823375-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823375C>T , CM000667.2:g.90823375C>T GRCh38
NC_000005.9:g.90119192C>T , CM000667.1:g.90119192C>T GRCh37
NC_000005.8:g.90154948C>T NCBI36
NG_007083.1:g.269576C>T
NG_007083.2:g.299032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.16197-50C>T MANE Select ENSP00000384582.2:n.16197-50C>T
ENST00000425867.3:c.5151-50C>T ENSP00000392618.3:n.5151-50C>T
ENST00000638510.1:n.3464-50C>T
ENST00000639431.1:c.265+147166C>T ENSP00000491057.1:n.265+147166C>T
ENST00000640061.1:n.128+1193C>T
ENST00000640407.1:c.2607-50C>T ENSP00000491425.1:n.2607-50C>T
ENST00000405460.6:c.16197-50C>T ENSP00000384582.2:n.16197-50C>T
ENST00000425867.2:c.3180-50C>T ENSP00000392618.2:n.3180-50C>T
NM_032119.3:c.16197-50C>T NP_115495.3:n.16197-50C>T
NR_003149.1:n.16210-50C>T
XM_011543675.1:c.16194-50C>T XP_011541977.1:n.16194-50C>T
XM_011543676.1:c.16116-50C>T XP_011541978.1:n.16116-50C>T
XM_011543677.1:c.13500-50C>T XP_011541979.1:n.13500-50C>T
NM_032119.4:c.16197-50C>T MANE Select NP_115495.3:n.16197-50C>T
XM_017009963.2:c.16218-50C>T XP_016865452.1:n.16218-50C>T
XM_017009964.2:c.16215-50C>T XP_016865453.1:n.16215-50C>T
XM_017009965.1:c.16215-50C>T XP_016865454.1:n.16215-50C>T
XM_017009966.2:c.16137-50C>T XP_016865455.1:n.16137-50C>T
XM_017009967.1:c.16122-50C>T XP_016865456.1:n.16122-50C>T
XM_017009968.2:c.16038-50C>T XP_016865457.1:n.16038-50C>T
XM_017009969.2:c.16218-50C>T XP_016865458.1:n.16218-50C>T
XM_017009972.1:c.9336-50C>T XP_016865461.1:n.9336-50C>T
XM_017009973.1:c.9315-50C>T XP_016865462.1:n.9315-50C>T
NR_003149.2:n.16213-50C>T