Canonical Allele Identifier: CA360386168
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90617952-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90617952A>T , CM000667.2:g.90617952A>T GRCh38
NC_000005.9:g.89913769A>T , CM000667.1:g.89913769A>T GRCh37
NC_000005.8:g.89949525A>T NCBI36
NG_007083.1:g.64153A>T
NG_007083.2:g.93609A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.356A>T MANE Select ENSP00000384582.2:p.Gln119Leu
ENST00000638316.1:n.566A>T
ENST00000638638.1:n.763A>T
ENST00000640083.1:n.61A>T
ENST00000640109.1:n.452A>T
ENST00000640281.1:n.415A>T
ENST00000405460.6:c.356A>T ENSP00000384582.2:p.Gln119Leu
ENST00000508842.5:c.368A>T ENSP00000425936.1:p.Gln123Leu
NM_032119.3:c.356A>T NP_115495.3:p.Gln119Leu
NR_003149.1:n.452A>T
XM_011543675.1:c.356A>T XP_011541977.1:p.Gln119Leu
XM_011543676.1:c.356A>T XP_011541978.1:p.Gln119Leu
XM_011543678.1:c.356A>T XP_011541980.1:p.Gln119Leu
XM_011543679.1:c.356A>T XP_011541981.1:p.Gln119Leu
NM_032119.4:c.356A>T MANE Select NP_115495.3:p.Gln119Leu
XM_017009963.2:c.356A>T XP_016865452.1:p.Gln119Leu
XM_017009964.2:c.356A>T XP_016865453.1:p.Gln119Leu
XM_017009965.1:c.353A>T XP_016865454.1:p.Gln118Leu
XM_017009966.2:c.356A>T XP_016865455.1:p.Gln119Leu
XM_017009967.1:c.356A>T XP_016865456.1:p.Gln119Leu
XM_017009968.2:c.356A>T XP_016865457.1:p.Gln119Leu
XM_017009969.2:c.356A>T XP_016865458.1:p.Gln119Leu
XM_017009970.2:c.356A>T XP_016865459.1:p.Gln119Leu
XM_017009971.2:c.356A>T XP_016865460.1:p.Gln119Leu
XM_017009974.2:c.356A>T XP_016865463.1:p.Gln119Leu
NR_003149.2:n.455A>T