Canonical Allele Identifier: CA122824820
Community Standard Title: NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90815730C>T , CM000667.2:g.90815730C>T GRCh38
NC_000005.9:g.90111547C>T , CM000667.1:g.90111547C>T GRCh37
NC_000005.8:g.90147303C>T NCBI36
NG_007083.1:g.261931C>T
NG_007083.2:g.291387C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16190C>T MANE Select NP_115495.3:p.Pro5397Leu
ENST00000405460.9:c.16190C>T MANE Select ENSP00000384582.2:p.Pro5397Leu
NM_032119.3:c.16190C>T NP_115495.3:p.Pro5397Leu
NR_003149.1:n.16203C>T
NR_003149.2:n.16206C>T
ENST00000405460.6:c.16190C>T ENSP00000384582.2:p.Pro5397Leu
ENST00000425867.2:c.3173C>T ENSP00000392618.2:p.Pro1058Leu
ENST00000425867.3:c.5144C>T ENSP00000392618.3:p.Pro1715Leu
ENST00000638510.1:n.3457C>T
ENST00000639431.1:c.265+139521C>T ENSP00000491057.1:n.265+139521C>T
ENST00000640407.1:c.2600C>T ENSP00000491425.1:p.Pro867Leu
XM_011543675.1:c.16187C>T XP_011541977.1:p.Pro5396Leu
XM_011543676.1:c.16109C>T XP_011541978.1:p.Pro5370Leu
XM_011543677.1:c.13493C>T XP_011541979.1:p.Pro4498Leu
XM_017009963.2:c.16211C>T XP_016865452.1:p.Pro5404Leu
XM_017009964.2:c.16208C>T XP_016865453.1:p.Pro5403Leu
XM_017009965.1:c.16208C>T XP_016865454.1:p.Pro5403Leu
XM_017009966.2:c.16130C>T XP_016865455.1:p.Pro5377Leu
XM_017009967.1:c.16115C>T XP_016865456.1:p.Pro5372Leu
XM_017009968.2:c.16031C>T XP_016865457.1:p.Pro5344Leu
XM_017009969.2:c.16211C>T XP_016865458.1:p.Pro5404Leu
XM_017009972.1:c.9329C>T XP_016865461.1:p.Pro3110Leu
XM_017009973.1:c.9308C>T XP_016865462.1:p.Pro3103Leu