Canonical Allele Identifier: CA360367492

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050999G>C (hg19) ; chr5:g.90755182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755182G>C , CM000667.2:g.90755182G>C	GRCh38
NC_000005.9:g.90050999G>C , CM000667.1:g.90050999G>C	GRCh37
NC_000005.8:g.90086755G>C	NCBI36
NG_007083.1:g.201383G>C
NG_007083.2:g.230839G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11577G>C MANE Select	ENSP00000384582.2:p.Leu3859Phe
ENST00000425867.3:c.708G>C	ENSP00000392618.3:p.Leu236Phe
ENST00000639431.1:c.265+78973G>C	ENSP00000491057.1:n.265+78973G>C
ENST00000640374.1:n.4721G>C
ENST00000640464.1:n.1996G>C
ENST00000405460.6:c.11577G>C	ENSP00000384582.2:p.Leu3859Phe
ENST00000509621.1:c.4274G>C
NM_032119.3:c.11577G>C	NP_115495.3:p.Leu3859Phe
NR_003149.1:n.11590G>C
XM_011543675.1:c.11574G>C	XP_011541977.1:p.Leu3858Phe
XM_011543676.1:c.11496G>C	XP_011541978.1:p.Leu3832Phe
XM_011543677.1:c.8880G>C	XP_011541979.1:p.Leu2960Phe
XM_011543678.1:c.11577G>C	XP_011541980.1:p.Leu3859Phe
NM_032119.4:c.11577G>C MANE Select	NP_115495.3:p.Leu3859Phe
XM_017009963.2:c.11598G>C	XP_016865452.1:p.Leu3866Phe
XM_017009964.2:c.11595G>C	XP_016865453.1:p.Leu3865Phe
XM_017009965.1:c.11595G>C	XP_016865454.1:p.Leu3865Phe
XM_017009966.2:c.11517G>C	XP_016865455.1:p.Leu3839Phe
XM_017009967.1:c.11502G>C	XP_016865456.1:p.Leu3834Phe
XM_017009968.2:c.11598G>C	XP_016865457.1:p.Leu3866Phe
XM_017009969.2:c.11598G>C	XP_016865458.1:p.Leu3866Phe
XM_017009970.2:c.11598G>C	XP_016865459.1:p.Leu3866Phe
XM_017009971.2:c.11598G>C	XP_016865460.1:p.Leu3866Phe
XM_017009972.1:c.4716G>C	XP_016865461.1:p.Leu1572Phe
XM_017009973.1:c.4695G>C	XP_016865462.1:p.Leu1565Phe
NR_003149.2:n.11593G>C