Canonical Allele Identifier: CA360398624

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90085555T>C (hg19) ; chr5:g.90789738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789738T>C , CM000667.2:g.90789738T>C	GRCh38
NC_000005.9:g.90085555T>C , CM000667.1:g.90085555T>C	GRCh37
NC_000005.8:g.90121311T>C	NCBI36
NG_007083.1:g.235939T>C
NG_007083.2:g.265395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.13930T>C MANE Select	ENSP00000384582.2:p.Phe4644Leu
ENST00000425867.3:c.2884T>C	ENSP00000392618.3:p.Phe962Leu
ENST00000638510.1:n.1197T>C
ENST00000638975.1:c.559T>C	ENSP00000492630.1:p.Phe187Leu
ENST00000639431.1:c.265+113529T>C	ENSP00000491057.1:n.265+113529T>C
ENST00000640407.1:c.340T>C	ENSP00000491425.1:p.Phe114Leu
ENST00000405460.6:c.13930T>C	ENSP00000384582.2:p.Phe4644Leu
ENST00000425867.2:c.913T>C	ENSP00000392618.2:p.Phe305Leu
NM_032119.3:c.13930T>C	NP_115495.3:p.Phe4644Leu
NR_003149.1:n.13943T>C
XM_011543675.1:c.13927T>C	XP_011541977.1:p.Phe4643Leu
XM_011543676.1:c.13849T>C	XP_011541978.1:p.Phe4617Leu
XM_011543677.1:c.11233T>C	XP_011541979.1:p.Phe3745Leu
XM_011543678.1:c.13930T>C	XP_011541980.1:p.Phe4644Leu
NM_032119.4:c.13930T>C MANE Select	NP_115495.3:p.Phe4644Leu
XM_017009963.2:c.13951T>C	XP_016865452.1:p.Phe4651Leu
XM_017009964.2:c.13948T>C	XP_016865453.1:p.Phe4650Leu
XM_017009965.1:c.13948T>C	XP_016865454.1:p.Phe4650Leu
XM_017009966.2:c.13870T>C	XP_016865455.1:p.Phe4624Leu
XM_017009967.1:c.13855T>C	XP_016865456.1:p.Phe4619Leu
XM_017009968.2:c.13951T>C	XP_016865457.1:p.Phe4651Leu
XM_017009969.2:c.13951T>C	XP_016865458.1:p.Phe4651Leu
XM_017009970.2:c.13951T>C	XP_016865459.1:p.Phe4651Leu
XM_017009971.2:c.13951T>C	XP_016865460.1:p.Phe4651Leu
XM_017009972.1:c.7069T>C	XP_016865461.1:p.Phe2357Leu
XM_017009973.1:c.7048T>C	XP_016865462.1:p.Phe2350Leu
NR_003149.2:n.13946T>C