Canonical Allele Identifier: CA445411745

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1475271848
• gnomAD v2: 5-90008118-T-C
• gnomAD v4: 5-90712301-T-C
• MyVariant Identifiers: chr5:g.90008118T>C (hg19) ; chr5:g.90712301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90712301T>C , CM000667.2:g.90712301T>C	GRCh38
NC_000005.9:g.90008118T>C , CM000667.1:g.90008118T>C	GRCh37
NC_000005.8:g.90043874T>C	NCBI36
NG_007083.1:g.158502T>C
NG_007083.2:g.187958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9057T>C MANE Select	ENSP00000384582.2:p.Ala3019=
ENST00000639431.1:c.265+36092T>C	ENSP00000491057.1:n.265+36092T>C
ENST00000639473.1:n.4516T>C
ENST00000640012.1:c.2864T>C
ENST00000640374.1:n.2201T>C
ENST00000640779.1:c.3786T>C
ENST00000405460.6:c.9057T>C	ENSP00000384582.2:p.Ala3019=
ENST00000509621.1:c.1754T>C
NM_032119.3:c.9057T>C	NP_115495.3:p.Ala3019=
NR_003149.1:n.9070T>C
XM_011543675.1:c.9054T>C	XP_011541977.1:p.Ala3018=
XM_011543676.1:c.8976T>C	XP_011541978.1:p.Ala2992=
XM_011543677.1:c.6360T>C	XP_011541979.1:p.Ala2120=
XM_011543678.1:c.9057T>C	XP_011541980.1:p.Ala3019=
XM_011543679.1:c.9057T>C	XP_011541981.1:p.Ala3019=
NM_032119.4:c.9057T>C MANE Select	NP_115495.3:p.Ala3019=
XM_017009963.2:c.9078T>C	XP_016865452.1:p.Ala3026=
XM_017009964.2:c.9075T>C	XP_016865453.1:p.Ala3025=
XM_017009965.1:c.9075T>C	XP_016865454.1:p.Ala3025=
XM_017009966.2:c.8997T>C	XP_016865455.1:p.Ala2999=
XM_017009967.1:c.8982T>C	XP_016865456.1:p.Ala2994=
XM_017009968.2:c.9078T>C	XP_016865457.1:p.Ala3026=
XM_017009969.2:c.9078T>C	XP_016865458.1:p.Ala3026=
XM_017009970.2:c.9078T>C	XP_016865459.1:p.Ala3026=
XM_017009971.2:c.9078T>C	XP_016865460.1:p.Ala3026=
XM_017009972.1:c.2196T>C	XP_016865461.1:p.Ala732=
XM_017009973.1:c.2175T>C	XP_016865462.1:p.Ala725=
XM_017009974.2:c.9078T>C	XP_016865463.1:p.Ala3026=
NR_003149.2:n.9073T>C