Canonical Allele Identifier: CA248238

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90629375T>C , CM000667.2:g.90629375T>C	GRCh38
NC_000005.9:g.89925192T>C , CM000667.1:g.89925192T>C	GRCh37
NC_000005.8:g.89960948T>C	NCBI36
NG_007083.1:g.75576T>C
NG_007083.2:g.105032T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.1675T>C MANE Select	NP_115495.3:p.Tyr559His
ENST00000405460.9:c.1675T>C MANE Select	ENSP00000384582.2:p.Tyr559His
NM_032119.3:c.1675T>C	NP_115495.3:p.Tyr559His
NR_003149.1:n.1771T>C
NR_003149.2:n.1774T>C
ENST00000405460.6:c.1675T>C	ENSP00000384582.2:p.Tyr559His
ENST00000504142.1:c.440T>C
ENST00000504142.2:n.441T>C
ENST00000640109.1:n.1771T>C
XM_011543675.1:c.1675T>C	XP_011541977.1:p.Tyr559His
XM_011543676.1:c.1675T>C	XP_011541978.1:p.Tyr559His
XM_011543678.1:c.1675T>C	XP_011541980.1:p.Tyr559His
XM_011543679.1:c.1675T>C	XP_011541981.1:p.Tyr559His
XM_017009963.2:c.1675T>C	XP_016865452.1:p.Tyr559His
XM_017009964.2:c.1675T>C	XP_016865453.1:p.Tyr559His
XM_017009965.1:c.1672T>C	XP_016865454.1:p.Tyr558His
XM_017009966.2:c.1675T>C	XP_016865455.1:p.Tyr559His
XM_017009967.1:c.1579T>C	XP_016865456.1:p.Tyr527His
XM_017009968.2:c.1675T>C	XP_016865457.1:p.Tyr559His
XM_017009969.2:c.1675T>C	XP_016865458.1:p.Tyr559His
XM_017009970.2:c.1675T>C	XP_016865459.1:p.Tyr559His
XM_017009971.2:c.1675T>C	XP_016865460.1:p.Tyr559His
XM_017009974.2:c.1675T>C	XP_016865463.1:p.Tyr559His