Canonical Allele Identifier: CA360393567
Community Standard Title: NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90708876A>G , CM000667.2:g.90708876A>G GRCh38
NC_000005.9:g.90004693A>G , CM000667.1:g.90004693A>G GRCh37
NC_000005.8:g.90040449A>G NCBI36
NG_007083.1:g.155077A>G
NG_007083.2:g.184533A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8791A>G MANE Select NP_115495.3:p.Met2931Val
ENST00000405460.9:c.8791A>G MANE Select ENSP00000384582.2:p.Met2931Val
NM_032119.3:c.8791A>G NP_115495.3:p.Met2931Val
NR_003149.1:n.8804A>G
NR_003149.2:n.8807A>G
ENST00000405460.6:c.8791A>G ENSP00000384582.2:p.Met2931Val
ENST00000509621.1:c.1488A>G
ENST00000639431.1:c.265+32667A>G ENSP00000491057.1:n.265+32667A>G
ENST00000639473.1:n.4250A>G
ENST00000640012.1:c.2598A>G
ENST00000640374.1:n.1935A>G
ENST00000640403.1:c.6082A>G ENSP00000492531.1:p.Met2028Val
ENST00000640779.1:c.3520A>G
XM_011543675.1:c.8788A>G XP_011541977.1:p.Met2930Val
XM_011543676.1:c.8710A>G XP_011541978.1:p.Met2904Val
XM_011543677.1:c.6094A>G XP_011541979.1:p.Met2032Val
XM_011543678.1:c.8791A>G XP_011541980.1:p.Met2931Val
XM_011543679.1:c.8791A>G XP_011541981.1:p.Met2931Val
XM_017009963.2:c.8812A>G XP_016865452.1:p.Met2938Val
XM_017009964.2:c.8809A>G XP_016865453.1:p.Met2937Val
XM_017009965.1:c.8809A>G XP_016865454.1:p.Met2937Val
XM_017009966.2:c.8731A>G XP_016865455.1:p.Met2911Val
XM_017009967.1:c.8716A>G XP_016865456.1:p.Met2906Val
XM_017009968.2:c.8812A>G XP_016865457.1:p.Met2938Val
XM_017009969.2:c.8812A>G XP_016865458.1:p.Met2938Val
XM_017009970.2:c.8812A>G XP_016865459.1:p.Met2938Val
XM_017009971.2:c.8812A>G XP_016865460.1:p.Met2938Val
XM_017009972.1:c.1930A>G XP_016865461.1:p.Met644Val
XM_017009973.1:c.1909A>G XP_016865462.1:p.Met637Val
XM_017009974.2:c.8812A>G XP_016865463.1:p.Met2938Val