Canonical Allele Identifier: CA360396737
Community Standard Title: NM_032119.4(ADGRV1):c.13793C>T (p.Pro4598Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788210C>T , CM000667.2:g.90788210C>T GRCh38
NC_000005.9:g.90084027C>T , CM000667.1:g.90084027C>T GRCh37
NC_000005.8:g.90119783C>T NCBI36
NG_007083.1:g.234411C>T
NG_007083.2:g.263867C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13793C>T MANE Select NP_115495.3:p.Pro4598Leu
ENST00000405460.9:c.13793C>T MANE Select ENSP00000384582.2:p.Pro4598Leu
NM_032119.3:c.13793C>T NP_115495.3:p.Pro4598Leu
NR_003149.1:n.13806C>T
NR_003149.2:n.13809C>T
ENST00000405460.6:c.13793C>T ENSP00000384582.2:p.Pro4598Leu
ENST00000425867.2:c.776C>T ENSP00000392618.2:p.Pro259Leu
ENST00000425867.3:c.2747C>T ENSP00000392618.3:p.Pro916Leu
ENST00000638510.1:n.1060C>T
ENST00000638975.1:c.422C>T ENSP00000492630.1:p.Pro141Leu
ENST00000639431.1:c.265+112001C>T ENSP00000491057.1:n.265+112001C>T
ENST00000640407.1:c.203C>T ENSP00000491425.1:p.Pro68Leu
XM_011543675.1:c.13790C>T XP_011541977.1:p.Pro4597Leu
XM_011543676.1:c.13712C>T XP_011541978.1:p.Pro4571Leu
XM_011543677.1:c.11096C>T XP_011541979.1:p.Pro3699Leu
XM_011543678.1:c.13793C>T XP_011541980.1:p.Pro4598Leu
XM_017009963.2:c.13814C>T XP_016865452.1:p.Pro4605Leu
XM_017009964.2:c.13811C>T XP_016865453.1:p.Pro4604Leu
XM_017009965.1:c.13811C>T XP_016865454.1:p.Pro4604Leu
XM_017009966.2:c.13733C>T XP_016865455.1:p.Pro4578Leu
XM_017009967.1:c.13718C>T XP_016865456.1:p.Pro4573Leu
XM_017009968.2:c.13814C>T XP_016865457.1:p.Pro4605Leu
XM_017009969.2:c.13814C>T XP_016865458.1:p.Pro4605Leu
XM_017009970.2:c.13814C>T XP_016865459.1:p.Pro4605Leu
XM_017009971.2:c.13814C>T XP_016865460.1:p.Pro4605Leu
XM_017009972.1:c.6932C>T XP_016865461.1:p.Pro2311Leu
XM_017009973.1:c.6911C>T XP_016865462.1:p.Pro2304Leu