Canonical Allele Identifier: CA3342159

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90829022T>C , CM000667.2:g.90829022T>C	GRCh38
NC_000005.9:g.90124839T>C , CM000667.1:g.90124839T>C	GRCh37
NC_000005.8:g.90160595T>C	NCBI36
NG_007083.1:g.275223T>C
NG_007083.2:g.304679T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.16447T>C MANE Select	NP_115495.3:p.Phe5483Leu
ENST00000405460.9:c.16447T>C MANE Select	ENSP00000384582.2:p.Phe5483Leu
NM_032119.3:c.16447T>C	NP_115495.3:p.Phe5483Leu
NR_003149.1:n.16460T>C
NR_003149.2:n.16463T>C
ENST00000405460.6:c.16447T>C	ENSP00000384582.2:p.Phe5483Leu
ENST00000425867.2:c.3430T>C	ENSP00000392618.2:p.Phe1144Leu
ENST00000425867.3:c.5401T>C	ENSP00000392618.3:p.Phe1801Leu
ENST00000638510.1:n.3714T>C
ENST00000639431.1:c.265+152813T>C	ENSP00000491057.1:n.265+152813T>C
ENST00000640061.1:n.128+6840T>C
ENST00000640407.1:c.2896T>C	ENSP00000491425.1:n.2896T>C
XM_011543675.1:c.16444T>C	XP_011541977.1:p.Phe5482Leu
XM_011543676.1:c.16366T>C	XP_011541978.1:p.Phe5456Leu
XM_011543677.1:c.13750T>C	XP_011541979.1:p.Phe4584Leu
XM_017009963.2:c.16468T>C	XP_016865452.1:p.Phe5490Leu
XM_017009964.2:c.16465T>C	XP_016865453.1:p.Phe5489Leu
XM_017009965.1:c.16465T>C	XP_016865454.1:p.Phe5489Leu
XM_017009966.2:c.16387T>C	XP_016865455.1:p.Phe5463Leu
XM_017009967.1:c.16372T>C	XP_016865456.1:p.Phe5458Leu
XM_017009968.2:c.16288T>C	XP_016865457.1:p.Phe5430Leu
XM_017009969.2:c.16468T>C	XP_016865458.1:p.Phe5490Leu
XM_017009972.1:c.9586T>C	XP_016865461.1:p.Phe3196Leu
XM_017009973.1:c.9565T>C	XP_016865462.1:p.Phe3189Leu