Canonical Allele Identifier: CA360409153

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041499T>C (hg19) ; chr5:g.90745682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745682T>C , CM000667.2:g.90745682T>C	GRCh38
NC_000005.9:g.90041499T>C , CM000667.1:g.90041499T>C	GRCh37
NC_000005.8:g.90077255T>C	NCBI36
NG_007083.1:g.191883T>C
NG_007083.2:g.221339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10861T>C MANE Select	ENSP00000384582.2:p.Phe3621Leu
ENST00000639431.1:c.265+69473T>C	ENSP00000491057.1:n.265+69473T>C
ENST00000640374.1:n.4005T>C
ENST00000640464.1:n.1280T>C
ENST00000405460.6:c.10861T>C	ENSP00000384582.2:p.Phe3621Leu
ENST00000509621.1:c.3558T>C
NM_032119.3:c.10861T>C	NP_115495.3:p.Phe3621Leu
NR_003149.1:n.10874T>C
XM_011543675.1:c.10858T>C	XP_011541977.1:p.Phe3620Leu
XM_011543676.1:c.10780T>C	XP_011541978.1:p.Phe3594Leu
XM_011543677.1:c.8164T>C	XP_011541979.1:p.Phe2722Leu
XM_011543678.1:c.10861T>C	XP_011541980.1:p.Phe3621Leu
XM_011543679.1:c.*83T>C	XP_011541981.1:n.*83T>C
NM_032119.4:c.10861T>C MANE Select	NP_115495.3:p.Phe3621Leu
XM_017009963.2:c.10882T>C	XP_016865452.1:p.Phe3628Leu
XM_017009964.2:c.10879T>C	XP_016865453.1:p.Phe3627Leu
XM_017009965.1:c.10879T>C	XP_016865454.1:p.Phe3627Leu
XM_017009966.2:c.10801T>C	XP_016865455.1:p.Phe3601Leu
XM_017009967.1:c.10786T>C	XP_016865456.1:p.Phe3596Leu
XM_017009968.2:c.10882T>C	XP_016865457.1:p.Phe3628Leu
XM_017009969.2:c.10882T>C	XP_016865458.1:p.Phe3628Leu
XM_017009970.2:c.10882T>C	XP_016865459.1:p.Phe3628Leu
XM_017009971.2:c.10882T>C	XP_016865460.1:p.Phe3628Leu
XM_017009972.1:c.4000T>C	XP_016865461.1:p.Phe1334Leu
XM_017009973.1:c.3979T>C	XP_016865462.1:p.Phe1327Leu
XM_017009974.2:c.*83T>C	XP_016865463.1:n.*83T>C
NR_003149.2:n.10877T>C