Canonical Allele Identifier: CA3341899
Community Standard Title: NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810594C>T , CM000667.2:g.90810594C>T GRCh38
NC_000005.9:g.90106411C>T , CM000667.1:g.90106411C>T GRCh37
NC_000005.8:g.90142167C>T NCBI36
NG_007083.1:g.256795C>T
NG_007083.2:g.286251C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15334C>T MANE Select NP_115495.3:p.Arg5112Cys
ENST00000405460.9:c.15334C>T MANE Select ENSP00000384582.2:p.Arg5112Cys
NM_032119.3:c.15334C>T NP_115495.3:p.Arg5112Cys
NR_003149.1:n.15347C>T
NR_003149.2:n.15350C>T
ENST00000405460.6:c.15334C>T ENSP00000384582.2:p.Arg5112Cys
ENST00000425867.2:c.2317C>T ENSP00000392618.2:p.Arg773Cys
ENST00000425867.3:c.4288C>T ENSP00000392618.3:p.Arg1430Cys
ENST00000638510.1:n.2601C>T
ENST00000639431.1:c.265+134385C>T ENSP00000491057.1:n.265+134385C>T
ENST00000640407.1:c.1744C>T ENSP00000491425.1:p.Arg582Cys
XM_011543675.1:c.15331C>T XP_011541977.1:p.Arg5111Cys
XM_011543676.1:c.15253C>T XP_011541978.1:p.Arg5085Cys
XM_011543677.1:c.12637C>T XP_011541979.1:p.Arg4213Cys
XM_017009963.2:c.15355C>T XP_016865452.1:p.Arg5119Cys
XM_017009964.2:c.15352C>T XP_016865453.1:p.Arg5118Cys
XM_017009965.1:c.15352C>T XP_016865454.1:p.Arg5118Cys
XM_017009966.2:c.15274C>T XP_016865455.1:p.Arg5092Cys
XM_017009967.1:c.15259C>T XP_016865456.1:p.Arg5087Cys
XM_017009968.2:c.15175C>T XP_016865457.1:p.Arg5059Cys
XM_017009969.2:c.15355C>T XP_016865458.1:p.Arg5119Cys
XM_017009971.2:c.*288C>T XP_016865460.1:n.*288C>T
XM_017009972.1:c.8473C>T XP_016865461.1:p.Arg2825Cys
XM_017009973.1:c.8452C>T XP_016865462.1:p.Arg2818Cys