Canonical Allele Identifier: CA3340155
Community Standard Title: NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90697059A>G , CM000667.2:g.90697059A>G GRCh38
NC_000005.9:g.89992876A>G , CM000667.1:g.89992876A>G GRCh37
NC_000005.8:g.90028632A>G NCBI36
NG_007083.1:g.143260A>G
NG_007083.2:g.172716A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8068A>G MANE Select NP_115495.3:p.Thr2690Ala
ENST00000405460.9:c.8068A>G MANE Select ENSP00000384582.2:p.Thr2690Ala
NM_032119.3:c.8068A>G NP_115495.3:p.Thr2690Ala
NR_003149.1:n.8081A>G
NR_003149.2:n.8084A>G
ENST00000405460.6:c.8068A>G ENSP00000384582.2:p.Thr2690Ala
ENST00000509621.1:c.765A>G
ENST00000639431.1:c.265+20850A>G ENSP00000491057.1:n.265+20850A>G
ENST00000639473.1:n.3527A>G
ENST00000640012.1:c.1875A>G
ENST00000640374.1:n.1212A>G
ENST00000640403.1:c.5359A>G ENSP00000492531.1:p.Thr1787Ala
ENST00000640779.1:c.2797A>G
XM_011543675.1:c.8065A>G XP_011541977.1:p.Thr2689Ala
XM_011543676.1:c.7987A>G XP_011541978.1:p.Thr2663Ala
XM_011543677.1:c.5371A>G XP_011541979.1:p.Thr1791Ala
XM_011543678.1:c.8068A>G XP_011541980.1:p.Thr2690Ala
XM_011543679.1:c.8068A>G XP_011541981.1:p.Thr2690Ala
XM_017009963.2:c.8068A>G XP_016865452.1:p.Thr2690Ala
XM_017009964.2:c.8065A>G XP_016865453.1:p.Thr2689Ala
XM_017009965.1:c.8065A>G XP_016865454.1:p.Thr2689Ala
XM_017009966.2:c.7987A>G XP_016865455.1:p.Thr2663Ala
XM_017009967.1:c.7972A>G XP_016865456.1:p.Thr2658Ala
XM_017009968.2:c.8068A>G XP_016865457.1:p.Thr2690Ala
XM_017009969.2:c.8068A>G XP_016865458.1:p.Thr2690Ala
XM_017009970.2:c.8068A>G XP_016865459.1:p.Thr2690Ala
XM_017009971.2:c.8068A>G XP_016865460.1:p.Thr2690Ala
XM_017009972.1:c.1186A>G XP_016865461.1:p.Thr396Ala
XM_017009973.1:c.1186A>G XP_016865462.1:p.Thr396Ala
XM_017009974.2:c.8068A>G XP_016865463.1:p.Thr2690Ala