Canonical Allele Identifier: CA360397520

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1488134056
• gnomAD v2: 5-90012458-T-C
• gnomAD v4: 5-90716641-T-C
• MyVariant Identifiers: chr5:g.90012458T>C (hg19) ; chr5:g.90716641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716641T>C , CM000667.2:g.90716641T>C	GRCh38
NC_000005.9:g.90012458T>C , CM000667.1:g.90012458T>C	GRCh37
NC_000005.8:g.90048214T>C	NCBI36
NG_007083.1:g.162842T>C
NG_007083.2:g.192298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9359T>C MANE Select	ENSP00000384582.2:p.Ile3120Thr
ENST00000639431.1:c.265+40432T>C	ENSP00000491057.1:n.265+40432T>C
ENST00000639473.1:n.4818T>C
ENST00000640012.1:c.3166T>C
ENST00000640374.1:n.2503T>C
ENST00000640779.1:c.4088T>C
ENST00000405460.6:c.9359T>C	ENSP00000384582.2:p.Ile3120Thr
ENST00000509621.1:c.2056T>C
NM_032119.3:c.9359T>C	NP_115495.3:p.Ile3120Thr
NR_003149.1:n.9372T>C
XM_011543675.1:c.9356T>C	XP_011541977.1:p.Ile3119Thr
XM_011543676.1:c.9278T>C	XP_011541978.1:p.Ile3093Thr
XM_011543677.1:c.6662T>C	XP_011541979.1:p.Ile2221Thr
XM_011543678.1:c.9359T>C	XP_011541980.1:p.Ile3120Thr
XM_011543679.1:c.9359T>C	XP_011541981.1:p.Ile3120Thr
XR_948560.1:n.272-832A>G
NM_032119.4:c.9359T>C MANE Select	NP_115495.3:p.Ile3120Thr
XM_017009963.2:c.9380T>C	XP_016865452.1:p.Ile3127Thr
XM_017009964.2:c.9377T>C	XP_016865453.1:p.Ile3126Thr
XM_017009965.1:c.9377T>C	XP_016865454.1:p.Ile3126Thr
XM_017009966.2:c.9299T>C	XP_016865455.1:p.Ile3100Thr
XM_017009967.1:c.9284T>C	XP_016865456.1:p.Ile3095Thr
XM_017009968.2:c.9380T>C	XP_016865457.1:p.Ile3127Thr
XM_017009969.2:c.9380T>C	XP_016865458.1:p.Ile3127Thr
XM_017009970.2:c.9380T>C	XP_016865459.1:p.Ile3127Thr
XM_017009971.2:c.9380T>C	XP_016865460.1:p.Ile3127Thr
XM_017009972.1:c.2498T>C	XP_016865461.1:p.Ile833Thr
XM_017009973.1:c.2477T>C	XP_016865462.1:p.Ile826Thr
XM_017009974.2:c.9380T>C	XP_016865463.1:p.Ile3127Thr
XR_001742802.1:n.2523-832A>G
NR_003149.2:n.9375T>C