Canonical Allele Identifier: CA360399139
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90789839-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90789839T>A , CM000667.2:g.90789839T>A GRCh38
NC_000005.9:g.90085656T>A , CM000667.1:g.90085656T>A GRCh37
NC_000005.8:g.90121412T>A NCBI36
NG_007083.1:g.236040T>A
NG_007083.2:g.265496T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405460.9:c.14031T>A MANE Select ENSP00000384582.2:p.Phe4677Leu
ENST00000425867.3:c.2985T>A ENSP00000392618.3:p.Phe995Leu
ENST00000638510.1:n.1298T>A
ENST00000638975.1:c.660T>A ENSP00000492630.1:p.Phe220Leu
ENST00000639431.1:c.265+113630T>A ENSP00000491057.1:n.265+113630T>A
ENST00000640407.1:c.441T>A ENSP00000491425.1:p.Phe147Leu
ENST00000405460.6:c.14031T>A ENSP00000384582.2:p.Phe4677Leu
ENST00000425867.2:c.1014T>A ENSP00000392618.2:p.Phe338Leu
NM_032119.3:c.14031T>A NP_115495.3:p.Phe4677Leu
NR_003149.1:n.14044T>A
XM_011543675.1:c.14028T>A XP_011541977.1:p.Phe4676Leu
XM_011543676.1:c.13950T>A XP_011541978.1:p.Phe4650Leu
XM_011543677.1:c.11334T>A XP_011541979.1:p.Phe3778Leu
XM_011543678.1:c.14031T>A XP_011541980.1:p.Phe4677Leu
NM_032119.4:c.14031T>A MANE Select NP_115495.3:p.Phe4677Leu
XM_017009963.2:c.14052T>A XP_016865452.1:p.Phe4684Leu
XM_017009964.2:c.14049T>A XP_016865453.1:p.Phe4683Leu
XM_017009965.1:c.14049T>A XP_016865454.1:p.Phe4683Leu
XM_017009966.2:c.13971T>A XP_016865455.1:p.Phe4657Leu
XM_017009967.1:c.13956T>A XP_016865456.1:p.Phe4652Leu
XM_017009968.2:c.14052T>A XP_016865457.1:p.Phe4684Leu
XM_017009969.2:c.14052T>A XP_016865458.1:p.Phe4684Leu
XM_017009970.2:c.14052T>A XP_016865459.1:p.Phe4684Leu
XM_017009971.2:c.14052T>A XP_016865460.1:p.Phe4684Leu
XM_017009972.1:c.7170T>A XP_016865461.1:p.Phe2390Leu
XM_017009973.1:c.7149T>A XP_016865462.1:p.Phe2383Leu
NR_003149.2:n.14047T>A