Canonical Allele Identifier: CA360401705

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90791209-T-C
• MyVariant Identifiers: chr5:g.90087026T>C (hg19) ; chr5:g.90791209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90791209T>C , CM000667.2:g.90791209T>C	GRCh38
NC_000005.9:g.90087026T>C , CM000667.1:g.90087026T>C	GRCh37
NC_000005.8:g.90122782T>C	NCBI36
NG_007083.1:g.237410T>C
NG_007083.2:g.266866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14380T>C MANE Select	ENSP00000384582.2:p.Phe4794Leu
ENST00000425867.3:c.3334T>C	ENSP00000392618.3:p.Phe1112Leu
ENST00000507314.2:c.55T>C	ENSP00000491299.1:p.Phe19Leu
ENST00000638510.1:n.1647T>C
ENST00000638585.1:n.146T>C
ENST00000638975.1:c.1009T>C	ENSP00000492630.1:p.Phe337Leu
ENST00000639431.1:c.265+115000T>C	ENSP00000491057.1:n.265+115000T>C
ENST00000640407.1:c.790T>C	ENSP00000491425.1:p.Phe264Leu
ENST00000405460.6:c.14380T>C	ENSP00000384582.2:p.Phe4794Leu
ENST00000425867.2:c.1363T>C	ENSP00000392618.2:p.Phe455Leu
ENST00000507314.1:n.55T>C
NM_032119.3:c.14380T>C	NP_115495.3:p.Phe4794Leu
NR_003149.1:n.14393T>C
XM_011543675.1:c.14377T>C	XP_011541977.1:p.Phe4793Leu
XM_011543676.1:c.14299T>C	XP_011541978.1:p.Phe4767Leu
XM_011543677.1:c.11683T>C	XP_011541979.1:p.Phe3895Leu
XM_011543678.1:c.14380T>C	XP_011541980.1:p.Phe4794Leu
NM_032119.4:c.14380T>C MANE Select	NP_115495.3:p.Phe4794Leu
XM_017009963.2:c.14401T>C	XP_016865452.1:p.Phe4801Leu
XM_017009964.2:c.14398T>C	XP_016865453.1:p.Phe4800Leu
XM_017009965.1:c.14398T>C	XP_016865454.1:p.Phe4800Leu
XM_017009966.2:c.14320T>C	XP_016865455.1:p.Phe4774Leu
XM_017009967.1:c.14305T>C	XP_016865456.1:p.Phe4769Leu
XM_017009968.2:c.14401T>C	XP_016865457.1:p.Phe4801Leu
XM_017009969.2:c.14401T>C	XP_016865458.1:p.Phe4801Leu
XM_017009970.2:c.14401T>C	XP_016865459.1:p.Phe4801Leu
XM_017009971.2:c.14401T>C	XP_016865460.1:p.Phe4801Leu
XM_017009972.1:c.7519T>C	XP_016865461.1:p.Phe2507Leu
XM_017009973.1:c.7498T>C	XP_016865462.1:p.Phe2500Leu
NR_003149.2:n.14396T>C