Canonical Allele Identifier: CA3342254

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90840896C>T , CM000667.2:g.90840896C>T	GRCh38
NC_000005.9:g.90136713C>T , CM000667.1:g.90136713C>T	GRCh37
NC_000005.8:g.90172469C>T	NCBI36
NG_007083.1:g.287097C>T
NG_007083.2:g.316553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.16930C>T MANE Select	NP_115495.3:p.Leu5644Phe
ENST00000405460.9:c.16930C>T MANE Select	ENSP00000384582.2:p.Leu5644Phe
NM_032119.3:c.16930C>T	NP_115495.3:p.Leu5644Phe
NR_003149.1:n.16943C>T
NR_003149.2:n.16946C>T
ENST00000405460.6:c.16930C>T	ENSP00000384582.2:p.Leu5644Phe
ENST00000425867.2:c.3913C>T	ENSP00000392618.2:p.Leu1305Phe
ENST00000425867.3:c.5884C>T	ENSP00000392618.3:p.Leu1962Phe
ENST00000638510.1:n.4197C>T
ENST00000639431.1:c.266-144448C>T	ENSP00000491057.1:n.266-144448C>T
ENST00000640061.1:n.447C>T
ENST00000640407.1:c.3379C>T	ENSP00000491425.1:n.3379C>T
XM_011543675.1:c.16927C>T	XP_011541977.1:p.Leu5643Phe
XM_011543676.1:c.16849C>T	XP_011541978.1:p.Leu5617Phe
XM_011543677.1:c.14233C>T	XP_011541979.1:p.Leu4745Phe
XM_017009963.2:c.16951C>T	XP_016865452.1:p.Leu5651Phe
XM_017009964.2:c.16948C>T	XP_016865453.1:p.Leu5650Phe
XM_017009965.1:c.16948C>T	XP_016865454.1:p.Leu5650Phe
XM_017009966.2:c.16870C>T	XP_016865455.1:p.Leu5624Phe
XM_017009967.1:c.16855C>T	XP_016865456.1:p.Leu5619Phe
XM_017009968.2:c.16771C>T	XP_016865457.1:p.Leu5591Phe
XM_017009969.2:c.16951C>T	XP_016865458.1:p.Leu5651Phe
XM_017009972.1:c.10069C>T	XP_016865461.1:p.Leu3357Phe
XM_017009973.1:c.10048C>T	XP_016865462.1:p.Leu3350Phe