Canonical Allele Identifier: CA360397530

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716644-T-C
• MyVariant Identifiers: chr5:g.90012461T>C (hg19) ; chr5:g.90716644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716644T>C , CM000667.2:g.90716644T>C	GRCh38
NC_000005.9:g.90012461T>C , CM000667.1:g.90012461T>C	GRCh37
NC_000005.8:g.90048217T>C	NCBI36
NG_007083.1:g.162845T>C
NG_007083.2:g.192301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9362T>C MANE Select	ENSP00000384582.2:p.Val3121Ala
ENST00000639431.1:c.265+40435T>C	ENSP00000491057.1:n.265+40435T>C
ENST00000639473.1:n.4821T>C
ENST00000640012.1:c.3169T>C
ENST00000640374.1:n.2506T>C
ENST00000640779.1:c.4091T>C
ENST00000405460.6:c.9362T>C	ENSP00000384582.2:p.Val3121Ala
ENST00000509621.1:c.2059T>C
NM_032119.3:c.9362T>C	NP_115495.3:p.Val3121Ala
NR_003149.1:n.9375T>C
XM_011543675.1:c.9359T>C	XP_011541977.1:p.Val3120Ala
XM_011543676.1:c.9281T>C	XP_011541978.1:p.Val3094Ala
XM_011543677.1:c.6665T>C	XP_011541979.1:p.Val2222Ala
XM_011543678.1:c.9362T>C	XP_011541980.1:p.Val3121Ala
XM_011543679.1:c.9362T>C	XP_011541981.1:p.Val3121Ala
XR_948560.1:n.272-835A>G
NM_032119.4:c.9362T>C MANE Select	NP_115495.3:p.Val3121Ala
XM_017009963.2:c.9383T>C	XP_016865452.1:p.Val3128Ala
XM_017009964.2:c.9380T>C	XP_016865453.1:p.Val3127Ala
XM_017009965.1:c.9380T>C	XP_016865454.1:p.Val3127Ala
XM_017009966.2:c.9302T>C	XP_016865455.1:p.Val3101Ala
XM_017009967.1:c.9287T>C	XP_016865456.1:p.Val3096Ala
XM_017009968.2:c.9383T>C	XP_016865457.1:p.Val3128Ala
XM_017009969.2:c.9383T>C	XP_016865458.1:p.Val3128Ala
XM_017009970.2:c.9383T>C	XP_016865459.1:p.Val3128Ala
XM_017009971.2:c.9383T>C	XP_016865460.1:p.Val3128Ala
XM_017009972.1:c.2501T>C	XP_016865461.1:p.Val834Ala
XM_017009973.1:c.2480T>C	XP_016865462.1:p.Val827Ala
XM_017009974.2:c.9383T>C	XP_016865463.1:p.Val3128Ala
XR_001742802.1:n.2523-835A>G
NR_003149.2:n.9378T>C