Canonical Allele Identifier: CA3340519
Community Standard Title: NM_032119.4(ADGRV1):c.9482C>T (p.Pro3161Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90720082C>T , CM000667.2:g.90720082C>T GRCh38
NC_000005.9:g.90015899C>T , CM000667.1:g.90015899C>T GRCh37
NC_000005.8:g.90051655C>T NCBI36
NG_007083.1:g.166283C>T
NG_007083.2:g.195739C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9482C>T MANE Select NP_115495.3:p.Pro3161Leu
ENST00000405460.9:c.9482C>T MANE Select ENSP00000384582.2:p.Pro3161Leu
NM_032119.3:c.9482C>T NP_115495.3:p.Pro3161Leu
NR_003149.1:n.9495C>T
NR_003149.2:n.9498C>T
ENST00000405460.6:c.9482C>T ENSP00000384582.2:p.Pro3161Leu
ENST00000509621.1:c.2179C>T
ENST00000639431.1:c.265+43873C>T ENSP00000491057.1:n.265+43873C>T
ENST00000640374.1:n.2626C>T
ENST00000640779.1:c.4211C>T
XM_011543675.1:c.9479C>T XP_011541977.1:p.Pro3160Leu
XM_011543676.1:c.9401C>T XP_011541978.1:p.Pro3134Leu
XM_011543677.1:c.6785C>T XP_011541979.1:p.Pro2262Leu
XM_011543678.1:c.9482C>T XP_011541980.1:p.Pro3161Leu
XM_011543679.1:c.9482C>T XP_011541981.1:p.Pro3161Leu
XM_017009963.2:c.9503C>T XP_016865452.1:p.Pro3168Leu
XM_017009964.2:c.9500C>T XP_016865453.1:p.Pro3167Leu
XM_017009965.1:c.9500C>T XP_016865454.1:p.Pro3167Leu
XM_017009966.2:c.9422C>T XP_016865455.1:p.Pro3141Leu
XM_017009967.1:c.9407C>T XP_016865456.1:p.Pro3136Leu
XM_017009968.2:c.9503C>T XP_016865457.1:p.Pro3168Leu
XM_017009969.2:c.9503C>T XP_016865458.1:p.Pro3168Leu
XM_017009970.2:c.9503C>T XP_016865459.1:p.Pro3168Leu
XM_017009971.2:c.9503C>T XP_016865460.1:p.Pro3168Leu
XM_017009972.1:c.2621C>T XP_016865461.1:p.Pro874Leu
XM_017009973.1:c.2600C>T XP_016865462.1:p.Pro867Leu
XM_017009974.2:c.9503C>T XP_016865463.1:p.Pro3168Leu
XR_001742802.1:n.2523-4273G>A
XR_948560.1:n.272-4273G>A