Canonical Allele Identifier: CA360397507

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012455T>C (hg19) ; chr5:g.90716638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716638T>C , CM000667.2:g.90716638T>C	GRCh38
NC_000005.9:g.90012455T>C , CM000667.1:g.90012455T>C	GRCh37
NC_000005.8:g.90048211T>C	NCBI36
NG_007083.1:g.162839T>C
NG_007083.2:g.192295T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9356T>C MANE Select	ENSP00000384582.2:p.Phe3119Ser
ENST00000639431.1:c.265+40429T>C	ENSP00000491057.1:n.265+40429T>C
ENST00000639473.1:n.4815T>C
ENST00000640012.1:c.3163T>C
ENST00000640374.1:n.2500T>C
ENST00000640779.1:c.4085T>C
ENST00000405460.6:c.9356T>C	ENSP00000384582.2:p.Phe3119Ser
ENST00000509621.1:c.2053T>C
NM_032119.3:c.9356T>C	NP_115495.3:p.Phe3119Ser
NR_003149.1:n.9369T>C
XM_011543675.1:c.9353T>C	XP_011541977.1:p.Phe3118Ser
XM_011543676.1:c.9275T>C	XP_011541978.1:p.Phe3092Ser
XM_011543677.1:c.6659T>C	XP_011541979.1:p.Phe2220Ser
XM_011543678.1:c.9356T>C	XP_011541980.1:p.Phe3119Ser
XM_011543679.1:c.9356T>C	XP_011541981.1:p.Phe3119Ser
XR_948560.1:n.272-829A>G
NM_032119.4:c.9356T>C MANE Select	NP_115495.3:p.Phe3119Ser
XM_017009963.2:c.9377T>C	XP_016865452.1:p.Phe3126Ser
XM_017009964.2:c.9374T>C	XP_016865453.1:p.Phe3125Ser
XM_017009965.1:c.9374T>C	XP_016865454.1:p.Phe3125Ser
XM_017009966.2:c.9296T>C	XP_016865455.1:p.Phe3099Ser
XM_017009967.1:c.9281T>C	XP_016865456.1:p.Phe3094Ser
XM_017009968.2:c.9377T>C	XP_016865457.1:p.Phe3126Ser
XM_017009969.2:c.9377T>C	XP_016865458.1:p.Phe3126Ser
XM_017009970.2:c.9377T>C	XP_016865459.1:p.Phe3126Ser
XM_017009971.2:c.9377T>C	XP_016865460.1:p.Phe3126Ser
XM_017009972.1:c.2495T>C	XP_016865461.1:p.Phe832Ser
XM_017009973.1:c.2474T>C	XP_016865462.1:p.Phe825Ser
XM_017009974.2:c.9377T>C	XP_016865463.1:p.Phe3126Ser
XR_001742802.1:n.2523-829A>G
NR_003149.2:n.9372T>C