Canonical Allele Identifier: CA360409017

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745652-G-T
• MyVariant Identifiers: chr5:g.90041469G>T (hg19) ; chr5:g.90745652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745652G>T , CM000667.2:g.90745652G>T	GRCh38
NC_000005.9:g.90041469G>T , CM000667.1:g.90041469G>T	GRCh37
NC_000005.8:g.90077225G>T	NCBI36
NG_007083.1:g.191853G>T
NG_007083.2:g.221309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10831G>T MANE Select	ENSP00000384582.2:p.Asp3611Tyr
ENST00000639431.1:c.265+69443G>T	ENSP00000491057.1:n.265+69443G>T
ENST00000640374.1:n.3975G>T
ENST00000640464.1:n.1250G>T
ENST00000405460.6:c.10831G>T	ENSP00000384582.2:p.Asp3611Tyr
ENST00000509621.1:c.3528G>T
NM_032119.3:c.10831G>T	NP_115495.3:p.Asp3611Tyr
NR_003149.1:n.10844G>T
XM_011543675.1:c.10828G>T	XP_011541977.1:p.Asp3610Tyr
XM_011543676.1:c.10750G>T	XP_011541978.1:p.Asp3584Tyr
XM_011543677.1:c.8134G>T	XP_011541979.1:p.Asp2712Tyr
XM_011543678.1:c.10831G>T	XP_011541980.1:p.Asp3611Tyr
XM_011543679.1:c.*53G>T	XP_011541981.1:n.*53G>T
NM_032119.4:c.10831G>T MANE Select	NP_115495.3:p.Asp3611Tyr
XM_017009963.2:c.10852G>T	XP_016865452.1:p.Asp3618Tyr
XM_017009964.2:c.10849G>T	XP_016865453.1:p.Asp3617Tyr
XM_017009965.1:c.10849G>T	XP_016865454.1:p.Asp3617Tyr
XM_017009966.2:c.10771G>T	XP_016865455.1:p.Asp3591Tyr
XM_017009967.1:c.10756G>T	XP_016865456.1:p.Asp3586Tyr
XM_017009968.2:c.10852G>T	XP_016865457.1:p.Asp3618Tyr
XM_017009969.2:c.10852G>T	XP_016865458.1:p.Asp3618Tyr
XM_017009970.2:c.10852G>T	XP_016865459.1:p.Asp3618Tyr
XM_017009971.2:c.10852G>T	XP_016865460.1:p.Asp3618Tyr
XM_017009972.1:c.3970G>T	XP_016865461.1:p.Asp1324Tyr
XM_017009973.1:c.3949G>T	XP_016865462.1:p.Asp1317Tyr
XM_017009974.2:c.*53G>T	XP_016865463.1:n.*53G>T
NR_003149.2:n.10847G>T