Canonical Allele Identifier: CA360425469

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119255G>C (hg19) ; chr5:g.90823438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823438G>C , CM000667.2:g.90823438G>C	GRCh38
NC_000005.9:g.90119255G>C , CM000667.1:g.90119255G>C	GRCh37
NC_000005.8:g.90155011G>C	NCBI36
NG_007083.1:g.269639G>C
NG_007083.2:g.299095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16210G>C MANE Select	ENSP00000384582.2:p.Val5404Leu
ENST00000425867.3:c.5164G>C	ENSP00000392618.3:p.Val1722Leu
ENST00000638510.1:n.3477G>C
ENST00000639431.1:c.265+147229G>C	ENSP00000491057.1:n.265+147229G>C
ENST00000640061.1:n.128+1256G>C
ENST00000640407.1:c.2620G>C	ENSP00000491425.1:p.Val874Leu
ENST00000405460.6:c.16210G>C	ENSP00000384582.2:p.Val5404Leu
ENST00000425867.2:c.3193G>C	ENSP00000392618.2:p.Val1065Leu
NM_032119.3:c.16210G>C	NP_115495.3:p.Val5404Leu
NR_003149.1:n.16223G>C
XM_011543675.1:c.16207G>C	XP_011541977.1:p.Val5403Leu
XM_011543676.1:c.16129G>C	XP_011541978.1:p.Val5377Leu
XM_011543677.1:c.13513G>C	XP_011541979.1:p.Val4505Leu
NM_032119.4:c.16210G>C MANE Select	NP_115495.3:p.Val5404Leu
XM_017009963.2:c.16231G>C	XP_016865452.1:p.Val5411Leu
XM_017009964.2:c.16228G>C	XP_016865453.1:p.Val5410Leu
XM_017009965.1:c.16228G>C	XP_016865454.1:p.Val5410Leu
XM_017009966.2:c.16150G>C	XP_016865455.1:p.Val5384Leu
XM_017009967.1:c.16135G>C	XP_016865456.1:p.Val5379Leu
XM_017009968.2:c.16051G>C	XP_016865457.1:p.Val5351Leu
XM_017009969.2:c.16231G>C	XP_016865458.1:p.Val5411Leu
XM_017009972.1:c.9349G>C	XP_016865461.1:p.Val3117Leu
XM_017009973.1:c.9328G>C	XP_016865462.1:p.Val3110Leu
NR_003149.2:n.16226G>C