Canonical Allele Identifier: CA3341835
Community Standard Title: NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90807696A>G , CM000667.2:g.90807696A>G GRCh38
NC_000005.9:g.90103513A>G , CM000667.1:g.90103513A>G GRCh37
NC_000005.8:g.90139269A>G NCBI36
NG_007083.1:g.253897A>G
NG_007083.2:g.283353A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14931A>G MANE Select NP_115495.3:p.Leu4977=
ENST00000405460.9:c.14931A>G MANE Select ENSP00000384582.2:p.Leu4977=
NM_032119.3:c.14931A>G NP_115495.3:p.Leu4977=
NR_003149.1:n.14944A>G
NR_003149.2:n.14947A>G
ENST00000405460.6:c.14931A>G ENSP00000384582.2:p.Leu4977=
ENST00000425867.2:c.1914A>G ENSP00000392618.2:p.Leu638=
ENST00000425867.3:c.3885A>G ENSP00000392618.3:p.Leu1295=
ENST00000638510.1:n.2198A>G
ENST00000638585.1:n.428-2537A>G
ENST00000639431.1:c.265+131487A>G ENSP00000491057.1:n.265+131487A>G
ENST00000640407.1:c.1341A>G ENSP00000491425.1:p.Leu447=
XM_011543675.1:c.14928A>G XP_011541977.1:p.Leu4976=
XM_011543676.1:c.14850A>G XP_011541978.1:p.Leu4950=
XM_011543677.1:c.12234A>G XP_011541979.1:p.Leu4078=
XM_011543678.1:c.14931A>G XP_011541980.1:p.Leu4977=
XM_017009963.2:c.14952A>G XP_016865452.1:p.Leu4984=
XM_017009964.2:c.14949A>G XP_016865453.1:p.Leu4983=
XM_017009965.1:c.14949A>G XP_016865454.1:p.Leu4983=
XM_017009966.2:c.14871A>G XP_016865455.1:p.Leu4957=
XM_017009967.1:c.14856A>G XP_016865456.1:p.Leu4952=
XM_017009968.2:c.14777A>G XP_016865457.1:p.Tyr4926Cys
XM_017009969.2:c.14952A>G XP_016865458.1:p.Leu4984=
XM_017009970.2:c.14952A>G XP_016865459.1:p.Leu4984=
XM_017009971.2:c.14777A>G XP_016865460.1:p.Tyr4926Cys
XM_017009972.1:c.8070A>G XP_016865461.1:p.Leu2690=
XM_017009973.1:c.8049A>G XP_016865462.1:p.Leu2683=