Canonical Allele Identifier: CA3341709
Community Standard Title: NM_032119.4(ADGRV1):c.14334C>A (p.Asn4778Lys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791163C>A , CM000667.2:g.90791163C>A GRCh38
NC_000005.9:g.90086980C>A , CM000667.1:g.90086980C>A GRCh37
NC_000005.8:g.90122736C>A NCBI36
NG_007083.1:g.237364C>A
NG_007083.2:g.266820C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14334C>A MANE Select NP_115495.3:p.Asn4778Lys
ENST00000405460.9:c.14334C>A MANE Select ENSP00000384582.2:p.Asn4778Lys
NM_032119.3:c.14334C>A NP_115495.3:p.Asn4778Lys
NR_003149.1:n.14347C>A
NR_003149.2:n.14350C>A
ENST00000405460.6:c.14334C>A ENSP00000384582.2:p.Asn4778Lys
ENST00000425867.2:c.1317C>A ENSP00000392618.2:p.Asn439Lys
ENST00000425867.3:c.3288C>A ENSP00000392618.3:p.Asn1096Lys
ENST00000507314.1:n.9C>A
ENST00000507314.2:c.9C>A ENSP00000491299.1:p.Asn3Lys
ENST00000638510.1:n.1601C>A
ENST00000638585.1:n.100C>A
ENST00000638975.1:c.963C>A ENSP00000492630.1:p.Asn321Lys
ENST00000639431.1:c.265+114954C>A ENSP00000491057.1:n.265+114954C>A
ENST00000640407.1:c.744C>A ENSP00000491425.1:p.Asn248Lys
XM_011543675.1:c.14331C>A XP_011541977.1:p.Asn4777Lys
XM_011543676.1:c.14253C>A XP_011541978.1:p.Asn4751Lys
XM_011543677.1:c.11637C>A XP_011541979.1:p.Asn3879Lys
XM_011543678.1:c.14334C>A XP_011541980.1:p.Asn4778Lys
XM_017009963.2:c.14355C>A XP_016865452.1:p.Asn4785Lys
XM_017009964.2:c.14352C>A XP_016865453.1:p.Asn4784Lys
XM_017009965.1:c.14352C>A XP_016865454.1:p.Asn4784Lys
XM_017009966.2:c.14274C>A XP_016865455.1:p.Asn4758Lys
XM_017009967.1:c.14259C>A XP_016865456.1:p.Asn4753Lys
XM_017009968.2:c.14355C>A XP_016865457.1:p.Asn4785Lys
XM_017009969.2:c.14355C>A XP_016865458.1:p.Asn4785Lys
XM_017009970.2:c.14355C>A XP_016865459.1:p.Asn4785Lys
XM_017009971.2:c.14355C>A XP_016865460.1:p.Asn4785Lys
XM_017009972.1:c.7473C>A XP_016865461.1:p.Asn2491Lys
XM_017009973.1:c.7452C>A XP_016865462.1:p.Asn2484Lys