Canonical Allele Identifier: CA445406375
Gene: ADGRV1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.90059142T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763325T>G , CM000667.2:g.90763325T>G GRCh38
NC_000005.9:g.90059142T>G , CM000667.1:g.90059142T>G GRCh37
NC_000005.8:g.90094898T>G NCBI36
NG_007083.1:g.209526T>G
NG_007083.2:g.238982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.12141T>G MANE Select ENSP00000384582.2:p.Leu4047=
ENST00000425867.3:c.1095T>G ENSP00000392618.3:p.Leu365=
ENST00000639431.1:c.265+87116T>G ENSP00000491057.1:n.265+87116T>G
ENST00000640464.1:n.2560T>G
ENST00000640729.1:n.718T>G
ENST00000405460.6:c.12141T>G ENSP00000384582.2:p.Leu4047=
NM_032119.3:c.12141T>G NP_115495.3:p.Leu4047=
NR_003149.1:n.12154T>G
XM_011543675.1:c.12138T>G XP_011541977.1:p.Leu4046=
XM_011543676.1:c.12060T>G XP_011541978.1:p.Leu4020=
XM_011543677.1:c.9444T>G XP_011541979.1:p.Leu3148=
XM_011543678.1:c.12141T>G XP_011541980.1:p.Leu4047=
NM_032119.4:c.12141T>G MANE Select NP_115495.3:p.Leu4047=
XM_017009963.2:c.12162T>G XP_016865452.1:p.Leu4054=
XM_017009964.2:c.12159T>G XP_016865453.1:p.Leu4053=
XM_017009965.1:c.12159T>G XP_016865454.1:p.Leu4053=
XM_017009966.2:c.12081T>G XP_016865455.1:p.Leu4027=
XM_017009967.1:c.12066T>G XP_016865456.1:p.Leu4022=
XM_017009968.2:c.12162T>G XP_016865457.1:p.Leu4054=
XM_017009969.2:c.12162T>G XP_016865458.1:p.Leu4054=
XM_017009970.2:c.12162T>G XP_016865459.1:p.Leu4054=
XM_017009971.2:c.12162T>G XP_016865460.1:p.Leu4054=
XM_017009972.1:c.5280T>G XP_016865461.1:p.Leu1760=
XM_017009973.1:c.5259T>G XP_016865462.1:p.Leu1753=
NR_003149.2:n.12157T>G