Canonical Allele Identifier: CA360367487

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050998T>C (hg19) ; chr5:g.90755181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755181T>C , CM000667.2:g.90755181T>C	GRCh38
NC_000005.9:g.90050998T>C , CM000667.1:g.90050998T>C	GRCh37
NC_000005.8:g.90086754T>C	NCBI36
NG_007083.1:g.201382T>C
NG_007083.2:g.230838T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11576T>C MANE Select	ENSP00000384582.2:p.Leu3859Ser
ENST00000425867.3:c.707T>C	ENSP00000392618.3:p.Leu236Ser
ENST00000639431.1:c.265+78972T>C	ENSP00000491057.1:n.265+78972T>C
ENST00000640374.1:n.4720T>C
ENST00000640464.1:n.1995T>C
ENST00000405460.6:c.11576T>C	ENSP00000384582.2:p.Leu3859Ser
ENST00000509621.1:c.4273T>C
NM_032119.3:c.11576T>C	NP_115495.3:p.Leu3859Ser
NR_003149.1:n.11589T>C
XM_011543675.1:c.11573T>C	XP_011541977.1:p.Leu3858Ser
XM_011543676.1:c.11495T>C	XP_011541978.1:p.Leu3832Ser
XM_011543677.1:c.8879T>C	XP_011541979.1:p.Leu2960Ser
XM_011543678.1:c.11576T>C	XP_011541980.1:p.Leu3859Ser
NM_032119.4:c.11576T>C MANE Select	NP_115495.3:p.Leu3859Ser
XM_017009963.2:c.11597T>C	XP_016865452.1:p.Leu3866Ser
XM_017009964.2:c.11594T>C	XP_016865453.1:p.Leu3865Ser
XM_017009965.1:c.11594T>C	XP_016865454.1:p.Leu3865Ser
XM_017009966.2:c.11516T>C	XP_016865455.1:p.Leu3839Ser
XM_017009967.1:c.11501T>C	XP_016865456.1:p.Leu3834Ser
XM_017009968.2:c.11597T>C	XP_016865457.1:p.Leu3866Ser
XM_017009969.2:c.11597T>C	XP_016865458.1:p.Leu3866Ser
XM_017009970.2:c.11597T>C	XP_016865459.1:p.Leu3866Ser
XM_017009971.2:c.11597T>C	XP_016865460.1:p.Leu3866Ser
XM_017009972.1:c.4715T>C	XP_016865461.1:p.Leu1572Ser
XM_017009973.1:c.4694T>C	XP_016865462.1:p.Leu1565Ser
NR_003149.2:n.11592T>C