Canonical Allele Identifier: CA2557823409
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750080
ClinVar RCV Id: RCV003568757

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90728949A>C , CM000667.2:g.90728949A>C GRCh38
NC_000005.9:g.90024766A>C , CM000667.1:g.90024766A>C GRCh37
NC_000005.8:g.90060522A>C NCBI36
NG_007083.1:g.175150A>C
NG_007083.2:g.204606A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.10426+16A>C MANE Select ENSP00000384582.2:n.10426+16A>C
ENST00000639431.1:c.265+52740A>C ENSP00000491057.1:n.265+52740A>C
ENST00000640374.1:n.3570+16A>C
ENST00000640464.1:n.845+16A>C
ENST00000405460.6:c.10426+16A>C ENSP00000384582.2:n.10426+16A>C
ENST00000509621.1:c.3123+16A>C
NM_032119.3:c.10426+16A>C NP_115495.3:n.10426+16A>C
NR_003149.1:n.10439+16A>C
XM_011543675.1:c.10423+16A>C XP_011541977.1:n.10423+16A>C
XM_011543676.1:c.10345+16A>C XP_011541978.1:n.10345+16A>C
XM_011543677.1:c.7729+16A>C XP_011541979.1:n.7729+16A>C
XM_011543678.1:c.10426+16A>C XP_011541980.1:n.10426+16A>C
XM_011543679.1:c.10426+16A>C XP_011541981.1:n.10426+16A>C
XR_948560.1:n.271+11958T>G
NM_032119.4:c.10426+16A>C MANE Select NP_115495.3:n.10426+16A>C
XM_017009963.2:c.10447+16A>C XP_016865452.1:n.10447+16A>C
XM_017009964.2:c.10444+16A>C XP_016865453.1:n.10444+16A>C
XM_017009965.1:c.10444+16A>C XP_016865454.1:n.10444+16A>C
XM_017009966.2:c.10366+16A>C XP_016865455.1:n.10366+16A>C
XM_017009967.1:c.10351+16A>C XP_016865456.1:n.10351+16A>C
XM_017009968.2:c.10447+16A>C XP_016865457.1:n.10447+16A>C
XM_017009969.2:c.10447+16A>C XP_016865458.1:n.10447+16A>C
XM_017009970.2:c.10447+16A>C XP_016865459.1:n.10447+16A>C
XM_017009971.2:c.10447+16A>C XP_016865460.1:n.10447+16A>C
XM_017009972.1:c.3565+16A>C XP_016865461.1:n.3565+16A>C
XM_017009973.1:c.3544+16A>C XP_016865462.1:n.3544+16A>C
XM_017009974.2:c.10447+16A>C XP_016865463.1:n.10447+16A>C
XR_001742802.1:n.2522+11958T>G
NR_003149.2:n.10442+16A>C