Canonical Allele Identifier: CA360371070

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988480T>G (hg19) ; chr5:g.90692663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692663T>G , CM000667.2:g.90692663T>G	GRCh38
NC_000005.9:g.89988480T>G , CM000667.1:g.89988480T>G	GRCh37
NC_000005.8:g.90024236T>G	NCBI36
NG_007083.1:g.138864T>G
NG_007083.2:g.168320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7010T>G MANE Select	ENSP00000384582.2:p.Ile2337Ser
ENST00000639431.1:c.265+16454T>G	ENSP00000491057.1:n.265+16454T>G
ENST00000639473.1:n.2469T>G
ENST00000640012.1:c.817T>G
ENST00000640374.1:n.154T>G
ENST00000640403.1:c.4301T>G	ENSP00000492531.1:p.Ile1434Ser
ENST00000640779.1:c.1739T>G
ENST00000405460.6:c.7010T>G	ENSP00000384582.2:p.Ile2337Ser
NM_032119.3:c.7010T>G	NP_115495.3:p.Ile2337Ser
NR_003149.1:n.7023T>G
XM_011543675.1:c.7007T>G	XP_011541977.1:p.Ile2336Ser
XM_011543676.1:c.6929T>G	XP_011541978.1:p.Ile2310Ser
XM_011543677.1:c.4313T>G	XP_011541979.1:p.Ile1438Ser
XM_011543678.1:c.7010T>G	XP_011541980.1:p.Ile2337Ser
XM_011543679.1:c.7010T>G	XP_011541981.1:p.Ile2337Ser
NM_032119.4:c.7010T>G MANE Select	NP_115495.3:p.Ile2337Ser
XM_017009963.2:c.7010T>G	XP_016865452.1:p.Ile2337Ser
XM_017009964.2:c.7007T>G	XP_016865453.1:p.Ile2336Ser
XM_017009965.1:c.7007T>G	XP_016865454.1:p.Ile2336Ser
XM_017009966.2:c.6929T>G	XP_016865455.1:p.Ile2310Ser
XM_017009967.1:c.6914T>G	XP_016865456.1:p.Ile2305Ser
XM_017009968.2:c.7010T>G	XP_016865457.1:p.Ile2337Ser
XM_017009969.2:c.7010T>G	XP_016865458.1:p.Ile2337Ser
XM_017009970.2:c.7010T>G	XP_016865459.1:p.Ile2337Ser
XM_017009971.2:c.7010T>G	XP_016865460.1:p.Ile2337Ser
XM_017009972.1:c.128T>G	XP_016865461.1:p.Ile43Ser
XM_017009973.1:c.128T>G	XP_016865462.1:p.Ile43Ser
XM_017009974.2:c.7010T>G	XP_016865463.1:p.Ile2337Ser
NR_003149.2:n.7026T>G