Canonical Allele Identifier: CA360384824

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2041447
• ClinVar RCV Id: RCV002902979
• dbSNP Id: rs1289037094
• gnomAD v2: 5-89913622-T-C
• gnomAD v4: 5-90617805-T-C
• MyVariant Identifiers: chr5:g.89913622T>C (hg19) ; chr5:g.90617805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617805T>C , CM000667.2:g.90617805T>C	GRCh38
NC_000005.9:g.89913622T>C , CM000667.1:g.89913622T>C	GRCh37
NC_000005.8:g.89949378T>C	NCBI36
NG_007083.1:g.64006T>C
NG_007083.2:g.93462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.209T>C MANE Select	ENSP00000384582.2:p.Leu70Pro
ENST00000638316.1:n.419T>C
ENST00000638638.1:n.616T>C
ENST00000640109.1:n.305T>C
ENST00000640281.1:n.268T>C
ENST00000405460.6:c.209T>C	ENSP00000384582.2:p.Leu70Pro
ENST00000508842.5:c.221T>C	ENSP00000425936.1:p.Leu74Pro
NM_032119.3:c.209T>C	NP_115495.3:p.Leu70Pro
NR_003149.1:n.305T>C
XM_011543675.1:c.209T>C	XP_011541977.1:p.Leu70Pro
XM_011543676.1:c.209T>C	XP_011541978.1:p.Leu70Pro
XM_011543678.1:c.209T>C	XP_011541980.1:p.Leu70Pro
XM_011543679.1:c.209T>C	XP_011541981.1:p.Leu70Pro
NM_032119.4:c.209T>C MANE Select	NP_115495.3:p.Leu70Pro
XM_017009963.2:c.209T>C	XP_016865452.1:p.Leu70Pro
XM_017009964.2:c.209T>C	XP_016865453.1:p.Leu70Pro
XM_017009965.1:c.206T>C	XP_016865454.1:p.Leu69Pro
XM_017009966.2:c.209T>C	XP_016865455.1:p.Leu70Pro
XM_017009967.1:c.209T>C	XP_016865456.1:p.Leu70Pro
XM_017009968.2:c.209T>C	XP_016865457.1:p.Leu70Pro
XM_017009969.2:c.209T>C	XP_016865458.1:p.Leu70Pro
XM_017009970.2:c.209T>C	XP_016865459.1:p.Leu70Pro
XM_017009971.2:c.209T>C	XP_016865460.1:p.Leu70Pro
XM_017009974.2:c.209T>C	XP_016865463.1:p.Leu70Pro
NR_003149.2:n.308T>C