Canonical Allele Identifier: CA360403221

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90725576-T-C
• MyVariant Identifiers: chr5:g.90021393T>C (hg19) ; chr5:g.90725576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90725576T>C , CM000667.2:g.90725576T>C	GRCh38
NC_000005.9:g.90021393T>C , CM000667.1:g.90021393T>C	GRCh37
NC_000005.8:g.90057149T>C	NCBI36
NG_007083.1:g.171777T>C
NG_007083.2:g.201233T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10081T>C MANE Select	ENSP00000384582.2:p.Ser3361Pro
ENST00000639431.1:c.265+49367T>C	ENSP00000491057.1:n.265+49367T>C
ENST00000640374.1:n.3225T>C
ENST00000640464.1:n.500T>C
ENST00000405460.6:c.10081T>C	ENSP00000384582.2:p.Ser3361Pro
ENST00000509621.1:c.2778T>C
NM_032119.3:c.10081T>C	NP_115495.3:p.Ser3361Pro
NR_003149.1:n.10094T>C
XM_011543675.1:c.10078T>C	XP_011541977.1:p.Ser3360Pro
XM_011543676.1:c.10000T>C	XP_011541978.1:p.Ser3334Pro
XM_011543677.1:c.7384T>C	XP_011541979.1:p.Ser2462Pro
XM_011543678.1:c.10081T>C	XP_011541980.1:p.Ser3361Pro
XM_011543679.1:c.10081T>C	XP_011541981.1:p.Ser3361Pro
XR_948560.1:n.272-9767A>G
NM_032119.4:c.10081T>C MANE Select	NP_115495.3:p.Ser3361Pro
XM_017009963.2:c.10102T>C	XP_016865452.1:p.Ser3368Pro
XM_017009964.2:c.10099T>C	XP_016865453.1:p.Ser3367Pro
XM_017009965.1:c.10099T>C	XP_016865454.1:p.Ser3367Pro
XM_017009966.2:c.10021T>C	XP_016865455.1:p.Ser3341Pro
XM_017009967.1:c.10006T>C	XP_016865456.1:p.Ser3336Pro
XM_017009968.2:c.10102T>C	XP_016865457.1:p.Ser3368Pro
XM_017009969.2:c.10102T>C	XP_016865458.1:p.Ser3368Pro
XM_017009970.2:c.10102T>C	XP_016865459.1:p.Ser3368Pro
XM_017009971.2:c.10102T>C	XP_016865460.1:p.Ser3368Pro
XM_017009972.1:c.3220T>C	XP_016865461.1:p.Ser1074Pro
XM_017009973.1:c.3199T>C	XP_016865462.1:p.Ser1067Pro
XM_017009974.2:c.10102T>C	XP_016865463.1:p.Ser3368Pro
XR_001742802.1:n.2523-9767A>G
NR_003149.2:n.10097T>C