Canonical Allele Identifier: CA3340049
Community Standard Title: NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90694275A>G , CM000667.2:g.90694275A>G GRCh38
NC_000005.9:g.89990092A>G , CM000667.1:g.89990092A>G GRCh37
NC_000005.8:g.90025848A>G NCBI36
NG_007083.1:g.140476A>G
NG_007083.2:g.169932A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.7519A>G MANE Select NP_115495.3:p.Thr2507Ala
ENST00000405460.9:c.7519A>G MANE Select ENSP00000384582.2:p.Thr2507Ala
NM_032119.3:c.7519A>G NP_115495.3:p.Thr2507Ala
NR_003149.1:n.7532A>G
NR_003149.2:n.7535A>G
ENST00000405460.6:c.7519A>G ENSP00000384582.2:p.Thr2507Ala
ENST00000509621.1:c.216A>G
ENST00000639431.1:c.265+18066A>G ENSP00000491057.1:n.265+18066A>G
ENST00000639473.1:n.2978A>G
ENST00000640012.1:c.1326A>G
ENST00000640374.1:n.663A>G
ENST00000640403.1:c.4810A>G ENSP00000492531.1:p.Thr1604Ala
ENST00000640779.1:c.2248A>G
XM_011543675.1:c.7516A>G XP_011541977.1:p.Thr2506Ala
XM_011543676.1:c.7438A>G XP_011541978.1:p.Thr2480Ala
XM_011543677.1:c.4822A>G XP_011541979.1:p.Thr1608Ala
XM_011543678.1:c.7519A>G XP_011541980.1:p.Thr2507Ala
XM_011543679.1:c.7519A>G XP_011541981.1:p.Thr2507Ala
XM_017009963.2:c.7519A>G XP_016865452.1:p.Thr2507Ala
XM_017009964.2:c.7516A>G XP_016865453.1:p.Thr2506Ala
XM_017009965.1:c.7516A>G XP_016865454.1:p.Thr2506Ala
XM_017009966.2:c.7438A>G XP_016865455.1:p.Thr2480Ala
XM_017009967.1:c.7423A>G XP_016865456.1:p.Thr2475Ala
XM_017009968.2:c.7519A>G XP_016865457.1:p.Thr2507Ala
XM_017009969.2:c.7519A>G XP_016865458.1:p.Thr2507Ala
XM_017009970.2:c.7519A>G XP_016865459.1:p.Thr2507Ala
XM_017009971.2:c.7519A>G XP_016865460.1:p.Thr2507Ala
XM_017009972.1:c.637A>G XP_016865461.1:p.Thr213Ala
XM_017009973.1:c.637A>G XP_016865462.1:p.Thr213Ala
XM_017009974.2:c.7519A>G XP_016865463.1:p.Thr2507Ala