Canonical Allele Identifier: CA3341624
Community Standard Title: NM_032119.4(ADGRV1):c.13838A>C (p.His4613Pro)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788255A>C , CM000667.2:g.90788255A>C GRCh38
NC_000005.9:g.90084072A>C , CM000667.1:g.90084072A>C GRCh37
NC_000005.8:g.90119828A>C NCBI36
NG_007083.1:g.234456A>C
NG_007083.2:g.263912A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13838A>C MANE Select NP_115495.3:p.His4613Pro
ENST00000405460.9:c.13838A>C MANE Select ENSP00000384582.2:p.His4613Pro
NM_032119.3:c.13838A>C NP_115495.3:p.His4613Pro
NR_003149.1:n.13851A>C
NR_003149.2:n.13854A>C
ENST00000405460.6:c.13838A>C ENSP00000384582.2:p.His4613Pro
ENST00000425867.2:c.821A>C ENSP00000392618.2:p.His274Pro
ENST00000425867.3:c.2792A>C ENSP00000392618.3:p.His931Pro
ENST00000638510.1:n.1105A>C
ENST00000638975.1:c.467A>C ENSP00000492630.1:p.His156Pro
ENST00000639431.1:c.265+112046A>C ENSP00000491057.1:n.265+112046A>C
ENST00000640407.1:c.248A>C ENSP00000491425.1:p.His83Pro
XM_011543675.1:c.13835A>C XP_011541977.1:p.His4612Pro
XM_011543676.1:c.13757A>C XP_011541978.1:p.His4586Pro
XM_011543677.1:c.11141A>C XP_011541979.1:p.His3714Pro
XM_011543678.1:c.13838A>C XP_011541980.1:p.His4613Pro
XM_017009963.2:c.13859A>C XP_016865452.1:p.His4620Pro
XM_017009964.2:c.13856A>C XP_016865453.1:p.His4619Pro
XM_017009965.1:c.13856A>C XP_016865454.1:p.His4619Pro
XM_017009966.2:c.13778A>C XP_016865455.1:p.His4593Pro
XM_017009967.1:c.13763A>C XP_016865456.1:p.His4588Pro
XM_017009968.2:c.13859A>C XP_016865457.1:p.His4620Pro
XM_017009969.2:c.13859A>C XP_016865458.1:p.His4620Pro
XM_017009970.2:c.13859A>C XP_016865459.1:p.His4620Pro
XM_017009971.2:c.13859A>C XP_016865460.1:p.His4620Pro
XM_017009972.1:c.6977A>C XP_016865461.1:p.His2326Pro
XM_017009973.1:c.6956A>C XP_016865462.1:p.His2319Pro