Canonical Allele Identifier: CA360408863

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041431C>T (hg19) ; chr5:g.90745614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745614C>T , CM000667.2:g.90745614C>T	GRCh38
NC_000005.9:g.90041431C>T , CM000667.1:g.90041431C>T	GRCh37
NC_000005.8:g.90077187C>T	NCBI36
NG_007083.1:g.191815C>T
NG_007083.2:g.221271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10793C>T MANE Select	ENSP00000384582.2:p.Pro3598Leu
ENST00000639431.1:c.265+69405C>T	ENSP00000491057.1:n.265+69405C>T
ENST00000640374.1:n.3937C>T
ENST00000640464.1:n.1212C>T
ENST00000405460.6:c.10793C>T	ENSP00000384582.2:p.Pro3598Leu
ENST00000509621.1:c.3490C>T
NM_032119.3:c.10793C>T	NP_115495.3:p.Pro3598Leu
NR_003149.1:n.10806C>T
XM_011543675.1:c.10790C>T	XP_011541977.1:p.Pro3597Leu
XM_011543676.1:c.10712C>T	XP_011541978.1:p.Pro3571Leu
XM_011543677.1:c.8096C>T	XP_011541979.1:p.Pro2699Leu
XM_011543678.1:c.10793C>T	XP_011541980.1:p.Pro3598Leu
XM_011543679.1:c.*15C>T	XP_011541981.1:n.*15C>T
NM_032119.4:c.10793C>T MANE Select	NP_115495.3:p.Pro3598Leu
XM_017009963.2:c.10814C>T	XP_016865452.1:p.Pro3605Leu
XM_017009964.2:c.10811C>T	XP_016865453.1:p.Pro3604Leu
XM_017009965.1:c.10811C>T	XP_016865454.1:p.Pro3604Leu
XM_017009966.2:c.10733C>T	XP_016865455.1:p.Pro3578Leu
XM_017009967.1:c.10718C>T	XP_016865456.1:p.Pro3573Leu
XM_017009968.2:c.10814C>T	XP_016865457.1:p.Pro3605Leu
XM_017009969.2:c.10814C>T	XP_016865458.1:p.Pro3605Leu
XM_017009970.2:c.10814C>T	XP_016865459.1:p.Pro3605Leu
XM_017009971.2:c.10814C>T	XP_016865460.1:p.Pro3605Leu
XM_017009972.1:c.3932C>T	XP_016865461.1:p.Pro1311Leu
XM_017009973.1:c.3911C>T	XP_016865462.1:p.Pro1304Leu
XM_017009974.2:c.*15C>T	XP_016865463.1:n.*15C>T
NR_003149.2:n.10809C>T