Canonical Allele Identifier: CA360377489

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059167G>C (hg19) ; chr5:g.90763350G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763350G>C , CM000667.2:g.90763350G>C	GRCh38
NC_000005.9:g.90059167G>C , CM000667.1:g.90059167G>C	GRCh37
NC_000005.8:g.90094923G>C	NCBI36
NG_007083.1:g.209551G>C
NG_007083.2:g.239007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12166G>C MANE Select	ENSP00000384582.2:p.Val4056Leu
ENST00000425867.3:c.1120G>C	ENSP00000392618.3:p.Val374Leu
ENST00000639431.1:c.265+87141G>C	ENSP00000491057.1:n.265+87141G>C
ENST00000640464.1:n.2585G>C
ENST00000640729.1:n.743G>C
ENST00000405460.6:c.12166G>C	ENSP00000384582.2:p.Val4056Leu
NM_032119.3:c.12166G>C	NP_115495.3:p.Val4056Leu
NR_003149.1:n.12179G>C
XM_011543675.1:c.12163G>C	XP_011541977.1:p.Val4055Leu
XM_011543676.1:c.12085G>C	XP_011541978.1:p.Val4029Leu
XM_011543677.1:c.9469G>C	XP_011541979.1:p.Val3157Leu
XM_011543678.1:c.12166G>C	XP_011541980.1:p.Val4056Leu
NM_032119.4:c.12166G>C MANE Select	NP_115495.3:p.Val4056Leu
XM_017009963.2:c.12187G>C	XP_016865452.1:p.Val4063Leu
XM_017009964.2:c.12184G>C	XP_016865453.1:p.Val4062Leu
XM_017009965.1:c.12184G>C	XP_016865454.1:p.Val4062Leu
XM_017009966.2:c.12106G>C	XP_016865455.1:p.Val4036Leu
XM_017009967.1:c.12091G>C	XP_016865456.1:p.Val4031Leu
XM_017009968.2:c.12187G>C	XP_016865457.1:p.Val4063Leu
XM_017009969.2:c.12187G>C	XP_016865458.1:p.Val4063Leu
XM_017009970.2:c.12187G>C	XP_016865459.1:p.Val4063Leu
XM_017009971.2:c.12187G>C	XP_016865460.1:p.Val4063Leu
XM_017009972.1:c.5305G>C	XP_016865461.1:p.Val1769Leu
XM_017009973.1:c.5284G>C	XP_016865462.1:p.Val1762Leu
NR_003149.2:n.12182G>C