Canonical Allele Identifier: CA3340991

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 228705
• ClinVar RCV Id: RCV000220256 ; RCV001054099 ; RCV001151869
• dbSNP Id: rs759908554
• ExAC: 5:90051001 C / T
• gnomAD v2: 5-90051001-C-T
• gnomAD v3: 5-90755184-C-T
• gnomAD v4: 5-90755184-C-T
• MyVariant Identifiers: chr5:g.90051001C>T (hg19) ; chr5:g.90755184C>T (hg38)
• PubMed: PMID:25468891

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755184C>T , CM000667.2:g.90755184C>T	GRCh38
NC_000005.9:g.90051001C>T , CM000667.1:g.90051001C>T	GRCh37
NC_000005.8:g.90086757C>T	NCBI36
NG_007083.1:g.201385C>T
NG_007083.2:g.230841C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11579C>T MANE Select	ENSP00000384582.2:p.Pro3860Leu
ENST00000425867.3:c.710C>T	ENSP00000392618.3:p.Pro237Leu
ENST00000639431.1:c.265+78975C>T	ENSP00000491057.1:n.265+78975C>T
ENST00000640374.1:n.4723C>T
ENST00000640464.1:n.1998C>T
ENST00000405460.6:c.11579C>T	ENSP00000384582.2:p.Pro3860Leu
ENST00000509621.1:c.4276C>T
NM_032119.3:c.11579C>T	NP_115495.3:p.Pro3860Leu
NR_003149.1:n.11592C>T
XM_011543675.1:c.11576C>T	XP_011541977.1:p.Pro3859Leu
XM_011543676.1:c.11498C>T	XP_011541978.1:p.Pro3833Leu
XM_011543677.1:c.8882C>T	XP_011541979.1:p.Pro2961Leu
XM_011543678.1:c.11579C>T	XP_011541980.1:p.Pro3860Leu
NM_032119.4:c.11579C>T MANE Select	NP_115495.3:p.Pro3860Leu
XM_017009963.2:c.11600C>T	XP_016865452.1:p.Pro3867Leu
XM_017009964.2:c.11597C>T	XP_016865453.1:p.Pro3866Leu
XM_017009965.1:c.11597C>T	XP_016865454.1:p.Pro3866Leu
XM_017009966.2:c.11519C>T	XP_016865455.1:p.Pro3840Leu
XM_017009967.1:c.11504C>T	XP_016865456.1:p.Pro3835Leu
XM_017009968.2:c.11600C>T	XP_016865457.1:p.Pro3867Leu
XM_017009969.2:c.11600C>T	XP_016865458.1:p.Pro3867Leu
XM_017009970.2:c.11600C>T	XP_016865459.1:p.Pro3867Leu
XM_017009971.2:c.11600C>T	XP_016865460.1:p.Pro3867Leu
XM_017009972.1:c.4718C>T	XP_016865461.1:p.Pro1573Leu
XM_017009973.1:c.4697C>T	XP_016865462.1:p.Pro1566Leu
NR_003149.2:n.11595C>T