Canonical Allele Identifier: CA122803977

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1044882393
• gnomAD v4: 5-90823301-C-T
• MyVariant Identifiers: chr5:g.90119118C>T (hg19) ; chr5:g.90823301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823301C>T , CM000667.2:g.90823301C>T	GRCh38
NC_000005.9:g.90119118C>T , CM000667.1:g.90119118C>T	GRCh37
NC_000005.8:g.90154874C>T	NCBI36
NG_007083.1:g.269502C>T
NG_007083.2:g.298958C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.16197-124C>T MANE Select	ENSP00000384582.2:n.16197-124C>T
ENST00000425867.3:c.5151-124C>T	ENSP00000392618.3:n.5151-124C>T
ENST00000638510.1:n.3464-124C>T
ENST00000639431.1:c.265+147092C>T	ENSP00000491057.1:n.265+147092C>T
ENST00000640061.1:n.128+1119C>T
ENST00000640407.1:c.2607-124C>T	ENSP00000491425.1:n.2607-124C>T
ENST00000405460.6:c.16197-124C>T	ENSP00000384582.2:n.16197-124C>T
ENST00000425867.2:c.3180-124C>T	ENSP00000392618.2:n.3180-124C>T
NM_032119.3:c.16197-124C>T	NP_115495.3:n.16197-124C>T
NR_003149.1:n.16210-124C>T
XM_011543675.1:c.16194-124C>T	XP_011541977.1:n.16194-124C>T
XM_011543676.1:c.16116-124C>T	XP_011541978.1:n.16116-124C>T
XM_011543677.1:c.13500-124C>T	XP_011541979.1:n.13500-124C>T
NM_032119.4:c.16197-124C>T MANE Select	NP_115495.3:n.16197-124C>T
XM_017009963.2:c.16218-124C>T	XP_016865452.1:n.16218-124C>T
XM_017009964.2:c.16215-124C>T	XP_016865453.1:n.16215-124C>T
XM_017009965.1:c.16215-124C>T	XP_016865454.1:n.16215-124C>T
XM_017009966.2:c.16137-124C>T	XP_016865455.1:n.16137-124C>T
XM_017009967.1:c.16122-124C>T	XP_016865456.1:n.16122-124C>T
XM_017009968.2:c.16038-124C>T	XP_016865457.1:n.16038-124C>T
XM_017009969.2:c.16218-124C>T	XP_016865458.1:n.16218-124C>T
XM_017009972.1:c.9336-124C>T	XP_016865461.1:n.9336-124C>T
XM_017009973.1:c.9315-124C>T	XP_016865462.1:n.9315-124C>T
NR_003149.2:n.16213-124C>T