Canonical Allele Identifier: CA3338945
Community Standard Title: NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90642971T>C , CM000667.2:g.90642971T>C GRCh38
NC_000005.9:g.89938788T>C , CM000667.1:g.89938788T>C GRCh37
NC_000005.8:g.89974544T>C NCBI36
NG_007083.1:g.89172T>C
NG_007083.2:g.118628T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.2483T>C MANE Select NP_115495.3:p.Val828Ala
ENST00000405460.9:c.2483T>C MANE Select ENSP00000384582.2:p.Val828Ala
NM_032119.3:c.2483T>C NP_115495.3:p.Val828Ala
NR_003149.1:n.2579T>C
NR_003149.2:n.2582T>C
ENST00000405460.6:c.2483T>C ENSP00000384582.2:p.Val828Ala
ENST00000504142.1:c.1248T>C
ENST00000504142.2:n.1249T>C
ENST00000512205.1:n.393T>C
ENST00000639676.1:n.81T>C
ENST00000640403.1:c.-215T>C ENSP00000492531.1:n.-215T>C
XM_011543675.1:c.2483T>C XP_011541977.1:p.Val828Ala
XM_011543676.1:c.2483T>C XP_011541978.1:p.Val828Ala
XM_011543677.1:c.-215T>C XP_011541979.1:n.-215T>C
XM_011543678.1:c.2483T>C XP_011541980.1:p.Val828Ala
XM_011543679.1:c.2483T>C XP_011541981.1:p.Val828Ala
XM_017009963.2:c.2483T>C XP_016865452.1:p.Val828Ala
XM_017009964.2:c.2483T>C XP_016865453.1:p.Val828Ala
XM_017009965.1:c.2480T>C XP_016865454.1:p.Val827Ala
XM_017009966.2:c.2483T>C XP_016865455.1:p.Val828Ala
XM_017009967.1:c.2387T>C XP_016865456.1:p.Val796Ala
XM_017009968.2:c.2483T>C XP_016865457.1:p.Val828Ala
XM_017009969.2:c.2483T>C XP_016865458.1:p.Val828Ala
XM_017009970.2:c.2483T>C XP_016865459.1:p.Val828Ala
XM_017009971.2:c.2483T>C XP_016865460.1:p.Val828Ala
XM_017009974.2:c.2483T>C XP_016865463.1:p.Val828Ala