Canonical Allele Identifier: CA360397682

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012503C>T (hg19) ; chr5:g.90716686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716686C>T , CM000667.2:g.90716686C>T	GRCh38
NC_000005.9:g.90012503C>T , CM000667.1:g.90012503C>T	GRCh37
NC_000005.8:g.90048259C>T	NCBI36
NG_007083.1:g.162887C>T
NG_007083.2:g.192343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9404C>T MANE Select	ENSP00000384582.2:p.Pro3135Leu
ENST00000639431.1:c.265+40477C>T	ENSP00000491057.1:n.265+40477C>T
ENST00000639473.1:n.4863C>T
ENST00000640012.1:c.3211C>T
ENST00000640374.1:n.2548C>T
ENST00000640779.1:c.4133C>T
ENST00000405460.6:c.9404C>T	ENSP00000384582.2:p.Pro3135Leu
ENST00000509621.1:c.2101C>T
NM_032119.3:c.9404C>T	NP_115495.3:p.Pro3135Leu
NR_003149.1:n.9417C>T
XM_011543675.1:c.9401C>T	XP_011541977.1:p.Pro3134Leu
XM_011543676.1:c.9323C>T	XP_011541978.1:p.Pro3108Leu
XM_011543677.1:c.6707C>T	XP_011541979.1:p.Pro2236Leu
XM_011543678.1:c.9404C>T	XP_011541980.1:p.Pro3135Leu
XM_011543679.1:c.9404C>T	XP_011541981.1:p.Pro3135Leu
XR_948560.1:n.272-877G>A
NM_032119.4:c.9404C>T MANE Select	NP_115495.3:p.Pro3135Leu
XM_017009963.2:c.9425C>T	XP_016865452.1:p.Pro3142Leu
XM_017009964.2:c.9422C>T	XP_016865453.1:p.Pro3141Leu
XM_017009965.1:c.9422C>T	XP_016865454.1:p.Pro3141Leu
XM_017009966.2:c.9344C>T	XP_016865455.1:p.Pro3115Leu
XM_017009967.1:c.9329C>T	XP_016865456.1:p.Pro3110Leu
XM_017009968.2:c.9425C>T	XP_016865457.1:p.Pro3142Leu
XM_017009969.2:c.9425C>T	XP_016865458.1:p.Pro3142Leu
XM_017009970.2:c.9425C>T	XP_016865459.1:p.Pro3142Leu
XM_017009971.2:c.9425C>T	XP_016865460.1:p.Pro3142Leu
XM_017009972.1:c.2543C>T	XP_016865461.1:p.Pro848Leu
XM_017009973.1:c.2522C>T	XP_016865462.1:p.Pro841Leu
XM_017009974.2:c.9425C>T	XP_016865463.1:p.Pro3142Leu
XR_001742802.1:n.2523-877G>A
NR_003149.2:n.9420C>T