Canonical Allele Identifier: CA360409043

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745657-T-A
• MyVariant Identifiers: chr5:g.90041474T>A (hg19) ; chr5:g.90745657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745657T>A , CM000667.2:g.90745657T>A	GRCh38
NC_000005.9:g.90041474T>A , CM000667.1:g.90041474T>A	GRCh37
NC_000005.8:g.90077230T>A	NCBI36
NG_007083.1:g.191858T>A
NG_007083.2:g.221314T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10836T>A MANE Select	ENSP00000384582.2:p.Asp3612Glu
ENST00000639431.1:c.265+69448T>A	ENSP00000491057.1:n.265+69448T>A
ENST00000640374.1:n.3980T>A
ENST00000640464.1:n.1255T>A
ENST00000405460.6:c.10836T>A	ENSP00000384582.2:p.Asp3612Glu
ENST00000509621.1:c.3533T>A
NM_032119.3:c.10836T>A	NP_115495.3:p.Asp3612Glu
NR_003149.1:n.10849T>A
XM_011543675.1:c.10833T>A	XP_011541977.1:p.Asp3611Glu
XM_011543676.1:c.10755T>A	XP_011541978.1:p.Asp3585Glu
XM_011543677.1:c.8139T>A	XP_011541979.1:p.Asp2713Glu
XM_011543678.1:c.10836T>A	XP_011541980.1:p.Asp3612Glu
XM_011543679.1:c.*58T>A	XP_011541981.1:n.*58T>A
NM_032119.4:c.10836T>A MANE Select	NP_115495.3:p.Asp3612Glu
XM_017009963.2:c.10857T>A	XP_016865452.1:p.Asp3619Glu
XM_017009964.2:c.10854T>A	XP_016865453.1:p.Asp3618Glu
XM_017009965.1:c.10854T>A	XP_016865454.1:p.Asp3618Glu
XM_017009966.2:c.10776T>A	XP_016865455.1:p.Asp3592Glu
XM_017009967.1:c.10761T>A	XP_016865456.1:p.Asp3587Glu
XM_017009968.2:c.10857T>A	XP_016865457.1:p.Asp3619Glu
XM_017009969.2:c.10857T>A	XP_016865458.1:p.Asp3619Glu
XM_017009970.2:c.10857T>A	XP_016865459.1:p.Asp3619Glu
XM_017009971.2:c.10857T>A	XP_016865460.1:p.Asp3619Glu
XM_017009972.1:c.3975T>A	XP_016865461.1:p.Asp1325Glu
XM_017009973.1:c.3954T>A	XP_016865462.1:p.Asp1318Glu
XM_017009974.2:c.*58T>A	XP_016865463.1:n.*58T>A
NR_003149.2:n.10852T>A