Canonical Allele Identifier: CA122804248

Gene: ADGRV1

Linked Data

• dbSNP Id: rs936013116
• gnomAD v2: 5-90119582-T-C
• gnomAD v3: 5-90823765-T-C
• gnomAD v4: 5-90823765-T-C
• MyVariant Identifiers: chr5:g.90119582T>C (hg19) ; chr5:g.90823765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823765T>C , CM000667.2:g.90823765T>C	GRCh38
NC_000005.9:g.90119582T>C , CM000667.1:g.90119582T>C	GRCh37
NC_000005.8:g.90155338T>C	NCBI36
NG_007083.1:g.269966T>C
NG_007083.2:g.299422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16368+169T>C MANE Select	ENSP00000384582.2:n.16368+169T>C
ENST00000425867.3:c.5322+169T>C	ENSP00000392618.3:n.5322+169T>C
ENST00000638510.1:n.3635+169T>C
ENST00000639431.1:c.265+147556T>C	ENSP00000491057.1:n.265+147556T>C
ENST00000640061.1:n.128+1583T>C
ENST00000640407.1:c.2778+169T>C	ENSP00000491425.1:n.2778+169T>C
ENST00000405460.6:c.16368+169T>C	ENSP00000384582.2:n.16368+169T>C
ENST00000425867.2:c.3351+169T>C	ENSP00000392618.2:n.3351+169T>C
NM_032119.3:c.16368+169T>C	NP_115495.3:n.16368+169T>C
NR_003149.1:n.16381+169T>C
XM_011543675.1:c.16365+169T>C	XP_011541977.1:n.16365+169T>C
XM_011543676.1:c.16287+169T>C	XP_011541978.1:n.16287+169T>C
XM_011543677.1:c.13671+169T>C	XP_011541979.1:n.13671+169T>C
NM_032119.4:c.16368+169T>C MANE Select	NP_115495.3:n.16368+169T>C
XM_017009963.2:c.16389+169T>C	XP_016865452.1:n.16389+169T>C
XM_017009964.2:c.16386+169T>C	XP_016865453.1:n.16386+169T>C
XM_017009965.1:c.16386+169T>C	XP_016865454.1:n.16386+169T>C
XM_017009966.2:c.16308+169T>C	XP_016865455.1:n.16308+169T>C
XM_017009967.1:c.16293+169T>C	XP_016865456.1:n.16293+169T>C
XM_017009968.2:c.16209+169T>C	XP_016865457.1:n.16209+169T>C
XM_017009969.2:c.16389+169T>C	XP_016865458.1:n.16389+169T>C
XM_017009972.1:c.9507+169T>C	XP_016865461.1:n.9507+169T>C
XM_017009973.1:c.9486+169T>C	XP_016865462.1:n.9486+169T>C
NR_003149.2:n.16384+169T>C