Canonical Allele Identifier: CA445404248

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2772957
• ClinVar RCV Id: RCV003576943
• MyVariant Identifiers: chr5:g.90050997T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755180T>C , CM000667.2:g.90755180T>C	GRCh38
NC_000005.9:g.90050997T>C , CM000667.1:g.90050997T>C	GRCh37
NC_000005.8:g.90086753T>C	NCBI36
NG_007083.1:g.201381T>C
NG_007083.2:g.230837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11575T>C MANE Select	ENSP00000384582.2:p.Leu3859=
ENST00000425867.3:c.706T>C	ENSP00000392618.3:p.Leu236=
ENST00000639431.1:c.265+78971T>C	ENSP00000491057.1:n.265+78971T>C
ENST00000640374.1:n.4719T>C
ENST00000640464.1:n.1994T>C
ENST00000405460.6:c.11575T>C	ENSP00000384582.2:p.Leu3859=
ENST00000509621.1:c.4272T>C
NM_032119.3:c.11575T>C	NP_115495.3:p.Leu3859=
NR_003149.1:n.11588T>C
XM_011543675.1:c.11572T>C	XP_011541977.1:p.Leu3858=
XM_011543676.1:c.11494T>C	XP_011541978.1:p.Leu3832=
XM_011543677.1:c.8878T>C	XP_011541979.1:p.Leu2960=
XM_011543678.1:c.11575T>C	XP_011541980.1:p.Leu3859=
NM_032119.4:c.11575T>C MANE Select	NP_115495.3:p.Leu3859=
XM_017009963.2:c.11596T>C	XP_016865452.1:p.Leu3866=
XM_017009964.2:c.11593T>C	XP_016865453.1:p.Leu3865=
XM_017009965.1:c.11593T>C	XP_016865454.1:p.Leu3865=
XM_017009966.2:c.11515T>C	XP_016865455.1:p.Leu3839=
XM_017009967.1:c.11500T>C	XP_016865456.1:p.Leu3834=
XM_017009968.2:c.11596T>C	XP_016865457.1:p.Leu3866=
XM_017009969.2:c.11596T>C	XP_016865458.1:p.Leu3866=
XM_017009970.2:c.11596T>C	XP_016865459.1:p.Leu3866=
XM_017009971.2:c.11596T>C	XP_016865460.1:p.Leu3866=
XM_017009972.1:c.4714T>C	XP_016865461.1:p.Leu1572=
XM_017009973.1:c.4693T>C	XP_016865462.1:p.Leu1565=
NR_003149.2:n.11591T>C