Canonical Allele Identifier: CA360379230
Community Standard Title: NM_032119.4(ADGRV1):c.12285+1G>T
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90763470G>T , CM000667.2:g.90763470G>T GRCh38
NC_000005.9:g.90059287G>T , CM000667.1:g.90059287G>T GRCh37
NC_000005.8:g.90095043G>T NCBI36
NG_007083.1:g.209671G>T
NG_007083.2:g.239127G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12285+1G>T MANE Select NP_115495.3:n.12285+1G>T
ENST00000405460.9:c.12285+1G>T MANE Select ENSP00000384582.2:n.12285+1G>T
NM_032119.3:c.12285+1G>T NP_115495.3:n.12285+1G>T
NR_003149.1:n.12298+1G>T
NR_003149.2:n.12301+1G>T
ENST00000405460.6:c.12285+1G>T ENSP00000384582.2:n.12285+1G>T
ENST00000425867.3:c.1239+1G>T ENSP00000392618.3:n.1239+1G>T
ENST00000639431.1:c.265+87261G>T ENSP00000491057.1:n.265+87261G>T
ENST00000640464.1:n.2704+1G>T
ENST00000640729.1:n.862+1G>T
XM_011543675.1:c.12282+1G>T XP_011541977.1:n.12282+1G>T
XM_011543676.1:c.12204+1G>T XP_011541978.1:n.12204+1G>T
XM_011543677.1:c.9588+1G>T XP_011541979.1:n.9588+1G>T
XM_011543678.1:c.12285+1G>T XP_011541980.1:n.12285+1G>T
XM_017009963.2:c.12306+1G>T XP_016865452.1:n.12306+1G>T
XM_017009964.2:c.12303+1G>T XP_016865453.1:n.12303+1G>T
XM_017009965.1:c.12303+1G>T XP_016865454.1:n.12303+1G>T
XM_017009966.2:c.12225+1G>T XP_016865455.1:n.12225+1G>T
XM_017009967.1:c.12210+1G>T XP_016865456.1:n.12210+1G>T
XM_017009968.2:c.12306+1G>T XP_016865457.1:n.12306+1G>T
XM_017009969.2:c.12306+1G>T XP_016865458.1:n.12306+1G>T
XM_017009970.2:c.12306+1G>T XP_016865459.1:n.12306+1G>T
XM_017009971.2:c.12306+1G>T XP_016865460.1:n.12306+1G>T
XM_017009972.1:c.5424+1G>T XP_016865461.1:n.5424+1G>T
XM_017009973.1:c.5403+1G>T XP_016865462.1:n.5403+1G>T