Canonical Allele Identifier: CA360425489

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119264T>C (hg19) ; chr5:g.90823447T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823447T>C , CM000667.2:g.90823447T>C	GRCh38
NC_000005.9:g.90119264T>C , CM000667.1:g.90119264T>C	GRCh37
NC_000005.8:g.90155020T>C	NCBI36
NG_007083.1:g.269648T>C
NG_007083.2:g.299104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16219T>C MANE Select	ENSP00000384582.2:p.Phe5407Leu
ENST00000425867.3:c.5173T>C	ENSP00000392618.3:p.Phe1725Leu
ENST00000638510.1:n.3486T>C
ENST00000639431.1:c.265+147238T>C	ENSP00000491057.1:n.265+147238T>C
ENST00000640061.1:n.128+1265T>C
ENST00000640407.1:c.2629T>C	ENSP00000491425.1:p.Phe877Leu
ENST00000405460.6:c.16219T>C	ENSP00000384582.2:p.Phe5407Leu
ENST00000425867.2:c.3202T>C	ENSP00000392618.2:p.Phe1068Leu
NM_032119.3:c.16219T>C	NP_115495.3:p.Phe5407Leu
NR_003149.1:n.16232T>C
XM_011543675.1:c.16216T>C	XP_011541977.1:p.Phe5406Leu
XM_011543676.1:c.16138T>C	XP_011541978.1:p.Phe5380Leu
XM_011543677.1:c.13522T>C	XP_011541979.1:p.Phe4508Leu
NM_032119.4:c.16219T>C MANE Select	NP_115495.3:p.Phe5407Leu
XM_017009963.2:c.16240T>C	XP_016865452.1:p.Phe5414Leu
XM_017009964.2:c.16237T>C	XP_016865453.1:p.Phe5413Leu
XM_017009965.1:c.16237T>C	XP_016865454.1:p.Phe5413Leu
XM_017009966.2:c.16159T>C	XP_016865455.1:p.Phe5387Leu
XM_017009967.1:c.16144T>C	XP_016865456.1:p.Phe5382Leu
XM_017009968.2:c.16060T>C	XP_016865457.1:p.Phe5354Leu
XM_017009969.2:c.16240T>C	XP_016865458.1:p.Phe5414Leu
XM_017009972.1:c.9358T>C	XP_016865461.1:p.Phe3120Leu
XM_017009973.1:c.9337T>C	XP_016865462.1:p.Phe3113Leu
NR_003149.2:n.16235T>C