Canonical Allele Identifier: CA3342332
Community Standard Title: NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90853294A>G , CM000667.2:g.90853294A>G GRCh38
NC_000005.9:g.90149111A>G , CM000667.1:g.90149111A>G GRCh37
NC_000005.8:g.90184867A>G NCBI36
NG_007083.1:g.299495A>G
NG_007083.2:g.328951A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.17215A>G MANE Select NP_115495.3:p.Ile5739Val
ENST00000405460.9:c.17215A>G MANE Select ENSP00000384582.2:p.Ile5739Val
NM_032119.3:c.17215A>G NP_115495.3:p.Ile5739Val
NR_003149.1:n.17228A>G
NR_003149.2:n.17231A>G
ENST00000405460.6:c.17215A>G ENSP00000384582.2:p.Ile5739Val
ENST00000425867.2:c.4198A>G ENSP00000392618.2:p.Ile1400Val
ENST00000425867.3:c.6169A>G ENSP00000392618.3:p.Ile2057Val
ENST00000505845.2:n.406A>G
ENST00000638510.1:n.4482A>G
ENST00000638990.1:c.427A>G
ENST00000639431.1:c.266-132050A>G ENSP00000491057.1:n.266-132050A>G
ENST00000640407.1:c.3664A>G ENSP00000491425.1:n.3664A>G
XM_011543675.1:c.17212A>G XP_011541977.1:p.Ile5738Val
XM_011543676.1:c.17134A>G XP_011541978.1:p.Ile5712Val
XM_011543677.1:c.14518A>G XP_011541979.1:p.Ile4840Val
XM_017009963.2:c.17236A>G XP_016865452.1:p.Ile5746Val
XM_017009964.2:c.17233A>G XP_016865453.1:p.Ile5745Val
XM_017009965.1:c.17233A>G XP_016865454.1:p.Ile5745Val
XM_017009966.2:c.17155A>G XP_016865455.1:p.Ile5719Val
XM_017009967.1:c.17140A>G XP_016865456.1:p.Ile5714Val
XM_017009968.2:c.17056A>G XP_016865457.1:p.Ile5686Val
XM_017009969.2:c.17236A>G XP_016865458.1:p.Ile5746Val
XM_017009972.1:c.10354A>G XP_016865461.1:p.Ile3452Val
XM_017009973.1:c.10333A>G XP_016865462.1:p.Ile3445Val