Canonical Allele Identifier: CA360408835

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041425T>C (hg19) ; chr5:g.90745608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745608T>C , CM000667.2:g.90745608T>C	GRCh38
NC_000005.9:g.90041425T>C , CM000667.1:g.90041425T>C	GRCh37
NC_000005.8:g.90077181T>C	NCBI36
NG_007083.1:g.191809T>C
NG_007083.2:g.221265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10787T>C MANE Select	ENSP00000384582.2:p.Phe3596Ser
ENST00000639431.1:c.265+69399T>C	ENSP00000491057.1:n.265+69399T>C
ENST00000640374.1:n.3931T>C
ENST00000640464.1:n.1206T>C
ENST00000405460.6:c.10787T>C	ENSP00000384582.2:p.Phe3596Ser
ENST00000509621.1:c.3484T>C
NM_032119.3:c.10787T>C	NP_115495.3:p.Phe3596Ser
NR_003149.1:n.10800T>C
XM_011543675.1:c.10784T>C	XP_011541977.1:p.Phe3595Ser
XM_011543676.1:c.10706T>C	XP_011541978.1:p.Phe3569Ser
XM_011543677.1:c.8090T>C	XP_011541979.1:p.Phe2697Ser
XM_011543678.1:c.10787T>C	XP_011541980.1:p.Phe3596Ser
XM_011543679.1:c.*9T>C	XP_011541981.1:n.*9T>C
NM_032119.4:c.10787T>C MANE Select	NP_115495.3:p.Phe3596Ser
XM_017009963.2:c.10808T>C	XP_016865452.1:p.Phe3603Ser
XM_017009964.2:c.10805T>C	XP_016865453.1:p.Phe3602Ser
XM_017009965.1:c.10805T>C	XP_016865454.1:p.Phe3602Ser
XM_017009966.2:c.10727T>C	XP_016865455.1:p.Phe3576Ser
XM_017009967.1:c.10712T>C	XP_016865456.1:p.Phe3571Ser
XM_017009968.2:c.10808T>C	XP_016865457.1:p.Phe3603Ser
XM_017009969.2:c.10808T>C	XP_016865458.1:p.Phe3603Ser
XM_017009970.2:c.10808T>C	XP_016865459.1:p.Phe3603Ser
XM_017009971.2:c.10808T>C	XP_016865460.1:p.Phe3603Ser
XM_017009972.1:c.3926T>C	XP_016865461.1:p.Phe1309Ser
XM_017009973.1:c.3905T>C	XP_016865462.1:p.Phe1302Ser
XM_017009974.2:c.*9T>C	XP_016865463.1:n.*9T>C
NR_003149.2:n.10803T>C