Canonical Allele Identifier: CA445415856
Gene: ADGRV1 HGNC NCBI

Linked Data

gnomAD v4: 5-90789788-G-T
MyVariant Identifiers: chr5:g.90085605G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90789788G>T , CM000667.2:g.90789788G>T GRCh38
NC_000005.9:g.90085605G>T , CM000667.1:g.90085605G>T GRCh37
NC_000005.8:g.90121361G>T NCBI36
NG_007083.1:g.235989G>T
NG_007083.2:g.265445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.13980G>T MANE Select ENSP00000384582.2:p.Leu4660=
ENST00000425867.3:c.2934G>T ENSP00000392618.3:p.Leu978=
ENST00000638510.1:n.1247G>T
ENST00000638975.1:c.609G>T ENSP00000492630.1:p.Leu203=
ENST00000639431.1:c.265+113579G>T ENSP00000491057.1:n.265+113579G>T
ENST00000640407.1:c.390G>T ENSP00000491425.1:p.Leu130=
ENST00000405460.6:c.13980G>T ENSP00000384582.2:p.Leu4660=
ENST00000425867.2:c.963G>T ENSP00000392618.2:p.Leu321=
NM_032119.3:c.13980G>T NP_115495.3:p.Leu4660=
NR_003149.1:n.13993G>T
XM_011543675.1:c.13977G>T XP_011541977.1:p.Leu4659=
XM_011543676.1:c.13899G>T XP_011541978.1:p.Leu4633=
XM_011543677.1:c.11283G>T XP_011541979.1:p.Leu3761=
XM_011543678.1:c.13980G>T XP_011541980.1:p.Leu4660=
NM_032119.4:c.13980G>T MANE Select NP_115495.3:p.Leu4660=
XM_017009963.2:c.14001G>T XP_016865452.1:p.Leu4667=
XM_017009964.2:c.13998G>T XP_016865453.1:p.Leu4666=
XM_017009965.1:c.13998G>T XP_016865454.1:p.Leu4666=
XM_017009966.2:c.13920G>T XP_016865455.1:p.Leu4640=
XM_017009967.1:c.13905G>T XP_016865456.1:p.Leu4635=
XM_017009968.2:c.14001G>T XP_016865457.1:p.Leu4667=
XM_017009969.2:c.14001G>T XP_016865458.1:p.Leu4667=
XM_017009970.2:c.14001G>T XP_016865459.1:p.Leu4667=
XM_017009971.2:c.14001G>T XP_016865460.1:p.Leu4667=
XM_017009972.1:c.7119G>T XP_016865461.1:p.Leu2373=
XM_017009973.1:c.7098G>T XP_016865462.1:p.Leu2366=
NR_003149.2:n.13996G>T