Canonical Allele Identifier: CA360425547

Gene: ADGRV1

Linked Data

• dbSNP Id: rs776337063
• gnomAD v2: 5-90119297-G-T
• gnomAD v4: 5-90823480-G-T
• MyVariant Identifiers: chr5:g.90119297G>T (hg19) ; chr5:g.90823480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823480G>T , CM000667.2:g.90823480G>T	GRCh38
NC_000005.9:g.90119297G>T , CM000667.1:g.90119297G>T	GRCh37
NC_000005.8:g.90155053G>T	NCBI36
NG_007083.1:g.269681G>T
NG_007083.2:g.299137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16252G>T MANE Select	ENSP00000384582.2:p.Val5418Leu
ENST00000425867.3:c.5206G>T	ENSP00000392618.3:p.Val1736Leu
ENST00000638510.1:n.3519G>T
ENST00000639431.1:c.265+147271G>T	ENSP00000491057.1:n.265+147271G>T
ENST00000640061.1:n.128+1298G>T
ENST00000640407.1:c.2662G>T	ENSP00000491425.1:p.Val888Leu
ENST00000405460.6:c.16252G>T	ENSP00000384582.2:p.Val5418Leu
ENST00000425867.2:c.3235G>T	ENSP00000392618.2:p.Val1079Leu
NM_032119.3:c.16252G>T	NP_115495.3:p.Val5418Leu
NR_003149.1:n.16265G>T
XM_011543675.1:c.16249G>T	XP_011541977.1:p.Val5417Leu
XM_011543676.1:c.16171G>T	XP_011541978.1:p.Val5391Leu
XM_011543677.1:c.13555G>T	XP_011541979.1:p.Val4519Leu
NM_032119.4:c.16252G>T MANE Select	NP_115495.3:p.Val5418Leu
XM_017009963.2:c.16273G>T	XP_016865452.1:p.Val5425Leu
XM_017009964.2:c.16270G>T	XP_016865453.1:p.Val5424Leu
XM_017009965.1:c.16270G>T	XP_016865454.1:p.Val5424Leu
XM_017009966.2:c.16192G>T	XP_016865455.1:p.Val5398Leu
XM_017009967.1:c.16177G>T	XP_016865456.1:p.Val5393Leu
XM_017009968.2:c.16093G>T	XP_016865457.1:p.Val5365Leu
XM_017009969.2:c.16273G>T	XP_016865458.1:p.Val5425Leu
XM_017009972.1:c.9391G>T	XP_016865461.1:p.Val3131Leu
XM_017009973.1:c.9370G>T	XP_016865462.1:p.Val3124Leu
NR_003149.2:n.16268G>T