Canonical Allele Identifier: CA360399384
Community Standard Title: NM_032119.4(ADGRV1):c.9472G>C (p.Asp3158His)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90720072G>C , CM000667.2:g.90720072G>C GRCh38
NC_000005.9:g.90015889G>C , CM000667.1:g.90015889G>C GRCh37
NC_000005.8:g.90051645G>C NCBI36
NG_007083.1:g.166273G>C
NG_007083.2:g.195729G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9472G>C MANE Select NP_115495.3:p.Asp3158His
ENST00000405460.9:c.9472G>C MANE Select ENSP00000384582.2:p.Asp3158His
NM_032119.3:c.9472G>C NP_115495.3:p.Asp3158His
NR_003149.1:n.9485G>C
NR_003149.2:n.9488G>C
ENST00000405460.6:c.9472G>C ENSP00000384582.2:p.Asp3158His
ENST00000509621.1:c.2169G>C
ENST00000639431.1:c.265+43863G>C ENSP00000491057.1:n.265+43863G>C
ENST00000640374.1:n.2616G>C
ENST00000640779.1:c.4201G>C
XM_011543675.1:c.9469G>C XP_011541977.1:p.Asp3157His
XM_011543676.1:c.9391G>C XP_011541978.1:p.Asp3131His
XM_011543677.1:c.6775G>C XP_011541979.1:p.Asp2259His
XM_011543678.1:c.9472G>C XP_011541980.1:p.Asp3158His
XM_011543679.1:c.9472G>C XP_011541981.1:p.Asp3158His
XM_017009963.2:c.9493G>C XP_016865452.1:p.Asp3165His
XM_017009964.2:c.9490G>C XP_016865453.1:p.Asp3164His
XM_017009965.1:c.9490G>C XP_016865454.1:p.Asp3164His
XM_017009966.2:c.9412G>C XP_016865455.1:p.Asp3138His
XM_017009967.1:c.9397G>C XP_016865456.1:p.Asp3133His
XM_017009968.2:c.9493G>C XP_016865457.1:p.Asp3165His
XM_017009969.2:c.9493G>C XP_016865458.1:p.Asp3165His
XM_017009970.2:c.9493G>C XP_016865459.1:p.Asp3165His
XM_017009971.2:c.9493G>C XP_016865460.1:p.Asp3165His
XM_017009972.1:c.2611G>C XP_016865461.1:p.Asp871His
XM_017009973.1:c.2590G>C XP_016865462.1:p.Asp864His
XM_017009974.2:c.9493G>C XP_016865463.1:p.Asp3165His
XR_001742802.1:n.2523-4263C>G
XR_948560.1:n.272-4263C>G