Canonical Allele Identifier: CA360409460

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1477403
• ClinVar RCV Id: RCV001971578
• dbSNP Id: rs2149917435
• MyVariant Identifiers: chr5:g.90041554C>G (hg19) ; chr5:g.90745737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745737C>G , CM000667.2:g.90745737C>G	GRCh38
NC_000005.9:g.90041554C>G , CM000667.1:g.90041554C>G	GRCh37
NC_000005.8:g.90077310C>G	NCBI36
NG_007083.1:g.191938C>G
NG_007083.2:g.221394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10916C>G MANE Select	ENSP00000384582.2:p.Ser3639Cys
ENST00000425867.3:c.47C>G	ENSP00000392618.3:p.Ser16Cys
ENST00000639431.1:c.265+69528C>G	ENSP00000491057.1:n.265+69528C>G
ENST00000640374.1:n.4060C>G
ENST00000640464.1:n.1335C>G
ENST00000405460.6:c.10916C>G	ENSP00000384582.2:p.Ser3639Cys
ENST00000509621.1:c.3613C>G
NM_032119.3:c.10916C>G	NP_115495.3:p.Ser3639Cys
NR_003149.1:n.10929C>G
XM_011543675.1:c.10913C>G	XP_011541977.1:p.Ser3638Cys
XM_011543676.1:c.10835C>G	XP_011541978.1:p.Ser3612Cys
XM_011543677.1:c.8219C>G	XP_011541979.1:p.Ser2740Cys
XM_011543678.1:c.10916C>G	XP_011541980.1:p.Ser3639Cys
NM_032119.4:c.10916C>G MANE Select	NP_115495.3:p.Ser3639Cys
XM_017009963.2:c.10937C>G	XP_016865452.1:p.Ser3646Cys
XM_017009964.2:c.10934C>G	XP_016865453.1:p.Ser3645Cys
XM_017009965.1:c.10934C>G	XP_016865454.1:p.Ser3645Cys
XM_017009966.2:c.10856C>G	XP_016865455.1:p.Ser3619Cys
XM_017009967.1:c.10841C>G	XP_016865456.1:p.Ser3614Cys
XM_017009968.2:c.10937C>G	XP_016865457.1:p.Ser3646Cys
XM_017009969.2:c.10937C>G	XP_016865458.1:p.Ser3646Cys
XM_017009970.2:c.10937C>G	XP_016865459.1:p.Ser3646Cys
XM_017009971.2:c.10937C>G	XP_016865460.1:p.Ser3646Cys
XM_017009972.1:c.4055C>G	XP_016865461.1:p.Ser1352Cys
XM_017009973.1:c.4034C>G	XP_016865462.1:p.Ser1345Cys
NR_003149.2:n.10932C>G