Canonical Allele Identifier: CA3341752
Community Standard Title: NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90802742T>C , CM000667.2:g.90802742T>C GRCh38
NC_000005.9:g.90098559T>C , CM000667.1:g.90098559T>C GRCh37
NC_000005.8:g.90134315T>C NCBI36
NG_007083.1:g.248943T>C
NG_007083.2:g.278399T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14521T>C MANE Select NP_115495.3:p.Phe4841Leu
ENST00000405460.9:c.14521T>C MANE Select ENSP00000384582.2:p.Phe4841Leu
NM_032119.3:c.14521T>C NP_115495.3:p.Phe4841Leu
NR_003149.1:n.14534T>C
NR_003149.2:n.14537T>C
ENST00000405460.6:c.14521T>C ENSP00000384582.2:p.Phe4841Leu
ENST00000425867.2:c.1504T>C ENSP00000392618.2:p.Phe502Leu
ENST00000425867.3:c.3475T>C ENSP00000392618.3:p.Phe1159Leu
ENST00000638510.1:n.1788T>C
ENST00000638585.1:n.287T>C
ENST00000639431.1:c.265+126533T>C ENSP00000491057.1:n.265+126533T>C
ENST00000640407.1:c.931T>C ENSP00000491425.1:p.Phe311Leu
XM_011543675.1:c.14518T>C XP_011541977.1:p.Phe4840Leu
XM_011543676.1:c.14440T>C XP_011541978.1:p.Phe4814Leu
XM_011543677.1:c.11824T>C XP_011541979.1:p.Phe3942Leu
XM_011543678.1:c.14521T>C XP_011541980.1:p.Phe4841Leu
XM_017009963.2:c.14542T>C XP_016865452.1:p.Phe4848Leu
XM_017009964.2:c.14539T>C XP_016865453.1:p.Phe4847Leu
XM_017009965.1:c.14539T>C XP_016865454.1:p.Phe4847Leu
XM_017009966.2:c.14461T>C XP_016865455.1:p.Phe4821Leu
XM_017009967.1:c.14446T>C XP_016865456.1:p.Phe4816Leu
XM_017009968.2:c.14542T>C XP_016865457.1:p.Phe4848Leu
XM_017009969.2:c.14542T>C XP_016865458.1:p.Phe4848Leu
XM_017009970.2:c.14542T>C XP_016865459.1:p.Phe4848Leu
XM_017009971.2:c.14542T>C XP_016865460.1:p.Phe4848Leu
XM_017009972.1:c.7660T>C XP_016865461.1:p.Phe2554Leu
XM_017009973.1:c.7639T>C XP_016865462.1:p.Phe2547Leu