Canonical Allele Identifier: CA360367038

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755119-G-T
• MyVariant Identifiers: chr5:g.90050936G>T (hg19) ; chr5:g.90755119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755119G>T , CM000667.2:g.90755119G>T	GRCh38
NC_000005.9:g.90050936G>T , CM000667.1:g.90050936G>T	GRCh37
NC_000005.8:g.90086692G>T	NCBI36
NG_007083.1:g.201320G>T
NG_007083.2:g.230776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11514G>T MANE Select	ENSP00000384582.2:p.Leu3838Phe
ENST00000425867.3:c.645G>T	ENSP00000392618.3:p.Leu215Phe
ENST00000639431.1:c.265+78910G>T	ENSP00000491057.1:n.265+78910G>T
ENST00000640374.1:n.4658G>T
ENST00000640464.1:n.1933G>T
ENST00000405460.6:c.11514G>T	ENSP00000384582.2:p.Leu3838Phe
ENST00000509621.1:c.4211G>T
NM_032119.3:c.11514G>T	NP_115495.3:p.Leu3838Phe
NR_003149.1:n.11527G>T
XM_011543675.1:c.11511G>T	XP_011541977.1:p.Leu3837Phe
XM_011543676.1:c.11433G>T	XP_011541978.1:p.Leu3811Phe
XM_011543677.1:c.8817G>T	XP_011541979.1:p.Leu2939Phe
XM_011543678.1:c.11514G>T	XP_011541980.1:p.Leu3838Phe
NM_032119.4:c.11514G>T MANE Select	NP_115495.3:p.Leu3838Phe
XM_017009963.2:c.11535G>T	XP_016865452.1:p.Leu3845Phe
XM_017009964.2:c.11532G>T	XP_016865453.1:p.Leu3844Phe
XM_017009965.1:c.11532G>T	XP_016865454.1:p.Leu3844Phe
XM_017009966.2:c.11454G>T	XP_016865455.1:p.Leu3818Phe
XM_017009967.1:c.11439G>T	XP_016865456.1:p.Leu3813Phe
XM_017009968.2:c.11535G>T	XP_016865457.1:p.Leu3845Phe
XM_017009969.2:c.11535G>T	XP_016865458.1:p.Leu3845Phe
XM_017009970.2:c.11535G>T	XP_016865459.1:p.Leu3845Phe
XM_017009971.2:c.11535G>T	XP_016865460.1:p.Leu3845Phe
XM_017009972.1:c.4653G>T	XP_016865461.1:p.Leu1551Phe
XM_017009973.1:c.4632G>T	XP_016865462.1:p.Leu1544Phe
NR_003149.2:n.11530G>T