Canonical Allele Identifier: CA360408988

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041462T>G (hg19) ; chr5:g.90745645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745645T>G , CM000667.2:g.90745645T>G	GRCh38
NC_000005.9:g.90041462T>G , CM000667.1:g.90041462T>G	GRCh37
NC_000005.8:g.90077218T>G	NCBI36
NG_007083.1:g.191846T>G
NG_007083.2:g.221302T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10824T>G MANE Select	ENSP00000384582.2:p.Asn3608Lys
ENST00000639431.1:c.265+69436T>G	ENSP00000491057.1:n.265+69436T>G
ENST00000640374.1:n.3968T>G
ENST00000640464.1:n.1243T>G
ENST00000405460.6:c.10824T>G	ENSP00000384582.2:p.Asn3608Lys
ENST00000509621.1:c.3521T>G
NM_032119.3:c.10824T>G	NP_115495.3:p.Asn3608Lys
NR_003149.1:n.10837T>G
XM_011543675.1:c.10821T>G	XP_011541977.1:p.Asn3607Lys
XM_011543676.1:c.10743T>G	XP_011541978.1:p.Asn3581Lys
XM_011543677.1:c.8127T>G	XP_011541979.1:p.Asn2709Lys
XM_011543678.1:c.10824T>G	XP_011541980.1:p.Asn3608Lys
XM_011543679.1:c.*46T>G	XP_011541981.1:n.*46T>G
NM_032119.4:c.10824T>G MANE Select	NP_115495.3:p.Asn3608Lys
XM_017009963.2:c.10845T>G	XP_016865452.1:p.Asn3615Lys
XM_017009964.2:c.10842T>G	XP_016865453.1:p.Asn3614Lys
XM_017009965.1:c.10842T>G	XP_016865454.1:p.Asn3614Lys
XM_017009966.2:c.10764T>G	XP_016865455.1:p.Asn3588Lys
XM_017009967.1:c.10749T>G	XP_016865456.1:p.Asn3583Lys
XM_017009968.2:c.10845T>G	XP_016865457.1:p.Asn3615Lys
XM_017009969.2:c.10845T>G	XP_016865458.1:p.Asn3615Lys
XM_017009970.2:c.10845T>G	XP_016865459.1:p.Asn3615Lys
XM_017009971.2:c.10845T>G	XP_016865460.1:p.Asn3615Lys
XM_017009972.1:c.3963T>G	XP_016865461.1:p.Asn1321Lys
XM_017009973.1:c.3942T>G	XP_016865462.1:p.Asn1314Lys
XM_017009974.2:c.*46T>G	XP_016865463.1:n.*46T>G
NR_003149.2:n.10840T>G