Canonical Allele Identifier: CA360385129

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90617832-T-C
• MyVariant Identifiers: chr5:g.89913649T>C (hg19) ; chr5:g.90617832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617832T>C , CM000667.2:g.90617832T>C	GRCh38
NC_000005.9:g.89913649T>C , CM000667.1:g.89913649T>C	GRCh37
NC_000005.8:g.89949405T>C	NCBI36
NG_007083.1:g.64033T>C
NG_007083.2:g.93489T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.236T>C MANE Select	ENSP00000384582.2:p.Phe79Ser
ENST00000638316.1:n.446T>C
ENST00000638638.1:n.643T>C
ENST00000640109.1:n.332T>C
ENST00000640281.1:n.295T>C
ENST00000405460.6:c.236T>C	ENSP00000384582.2:p.Phe79Ser
ENST00000508842.5:c.248T>C	ENSP00000425936.1:p.Phe83Ser
NM_032119.3:c.236T>C	NP_115495.3:p.Phe79Ser
NR_003149.1:n.332T>C
XM_011543675.1:c.236T>C	XP_011541977.1:p.Phe79Ser
XM_011543676.1:c.236T>C	XP_011541978.1:p.Phe79Ser
XM_011543678.1:c.236T>C	XP_011541980.1:p.Phe79Ser
XM_011543679.1:c.236T>C	XP_011541981.1:p.Phe79Ser
NM_032119.4:c.236T>C MANE Select	NP_115495.3:p.Phe79Ser
XM_017009963.2:c.236T>C	XP_016865452.1:p.Phe79Ser
XM_017009964.2:c.236T>C	XP_016865453.1:p.Phe79Ser
XM_017009965.1:c.233T>C	XP_016865454.1:p.Phe78Ser
XM_017009966.2:c.236T>C	XP_016865455.1:p.Phe79Ser
XM_017009967.1:c.236T>C	XP_016865456.1:p.Phe79Ser
XM_017009968.2:c.236T>C	XP_016865457.1:p.Phe79Ser
XM_017009969.2:c.236T>C	XP_016865458.1:p.Phe79Ser
XM_017009970.2:c.236T>C	XP_016865459.1:p.Phe79Ser
XM_017009971.2:c.236T>C	XP_016865460.1:p.Phe79Ser
XM_017009974.2:c.236T>C	XP_016865463.1:p.Phe79Ser
NR_003149.2:n.335T>C