Canonical Allele Identifier: CA3342545

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90985410T>C , CM000667.2:g.90985410T>C	GRCh38
NC_000005.9:g.90281227T>C , CM000667.1:g.90281227T>C	GRCh37
NC_000005.8:g.90316983T>C	NCBI36
NG_007083.1:g.431611T>C
NG_007083.2:g.461067T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18040T>C MANE Select	NP_115495.3:p.Phe6014Leu
ENST00000405460.9:c.18040T>C MANE Select	ENSP00000384582.2:p.Phe6014Leu
NM_032119.3:c.18040T>C	NP_115495.3:p.Phe6014Leu
NR_003149.1:n.18053T>C
NR_003149.2:n.18056T>C
ENST00000405460.6:c.18040T>C	ENSP00000384582.2:p.Phe6014Leu
ENST00000425867.2:c.5023T>C	ENSP00000392618.2:p.Phe1675Leu
ENST00000425867.3:c.6994T>C	ENSP00000392618.3:p.Phe2332Leu
ENST00000638510.1:n.5307T>C
ENST00000638990.1:c.1252T>C
ENST00000639431.1:c.332T>C	ENSP00000491057.1:n.332T>C
ENST00000639707.1:c.124T>C	ENSP00000492328.1:p.Phe42Leu
ENST00000639821.1:c.124T>C	ENSP00000492216.1:p.Phe42Leu
ENST00000640369.1:c.124T>C	ENSP00000491401.1:p.Phe42Leu
ENST00000640407.1:c.4489T>C	ENSP00000491425.1:n.4489T>C
ENST00000640815.1:c.124T>C	ENSP00000491767.1:p.Phe42Leu
XM_011543675.1:c.18037T>C	XP_011541977.1:p.Phe6013Leu
XM_011543676.1:c.17959T>C	XP_011541978.1:p.Phe5987Leu
XM_011543677.1:c.15343T>C	XP_011541979.1:p.Phe5115Leu
XM_017009963.2:c.18061T>C	XP_016865452.1:p.Phe6021Leu
XM_017009964.2:c.18058T>C	XP_016865453.1:p.Phe6020Leu
XM_017009965.1:c.18058T>C	XP_016865454.1:p.Phe6020Leu
XM_017009966.2:c.17980T>C	XP_016865455.1:p.Phe5994Leu
XM_017009967.1:c.17965T>C	XP_016865456.1:p.Phe5989Leu
XM_017009968.2:c.17881T>C	XP_016865457.1:p.Phe5961Leu
XM_017009969.2:c.18061T>C	XP_016865458.1:p.Phe6021Leu
XM_017009972.1:c.11179T>C	XP_016865461.1:p.Phe3727Leu
XM_017009973.1:c.11158T>C	XP_016865462.1:p.Phe3720Leu