Canonical Allele Identifier: CA3341697
Community Standard Title: NM_032119.4(ADGRV1):c.14253G>C (p.Trp4751Cys)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791082G>C , CM000667.2:g.90791082G>C GRCh38
NC_000005.9:g.90086899G>C , CM000667.1:g.90086899G>C GRCh37
NC_000005.8:g.90122655G>C NCBI36
NG_007083.1:g.237283G>C
NG_007083.2:g.266739G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14253G>C MANE Select NP_115495.3:p.Trp4751Cys
ENST00000405460.9:c.14253G>C MANE Select ENSP00000384582.2:p.Trp4751Cys
NM_032119.3:c.14253G>C NP_115495.3:p.Trp4751Cys
NR_003149.1:n.14266G>C
NR_003149.2:n.14269G>C
ENST00000405460.6:c.14253G>C ENSP00000384582.2:p.Trp4751Cys
ENST00000425867.2:c.1236G>C ENSP00000392618.2:p.Trp412Cys
ENST00000425867.3:c.3207G>C ENSP00000392618.3:p.Trp1069Cys
ENST00000638510.1:n.1520G>C
ENST00000638585.1:n.19G>C
ENST00000638975.1:c.882G>C ENSP00000492630.1:p.Trp294Cys
ENST00000639431.1:c.265+114873G>C ENSP00000491057.1:n.265+114873G>C
ENST00000640407.1:c.663G>C ENSP00000491425.1:p.Trp221Cys
XM_011543675.1:c.14250G>C XP_011541977.1:p.Trp4750Cys
XM_011543676.1:c.14172G>C XP_011541978.1:p.Trp4724Cys
XM_011543677.1:c.11556G>C XP_011541979.1:p.Trp3852Cys
XM_011543678.1:c.14253G>C XP_011541980.1:p.Trp4751Cys
XM_017009963.2:c.14274G>C XP_016865452.1:p.Trp4758Cys
XM_017009964.2:c.14271G>C XP_016865453.1:p.Trp4757Cys
XM_017009965.1:c.14271G>C XP_016865454.1:p.Trp4757Cys
XM_017009966.2:c.14193G>C XP_016865455.1:p.Trp4731Cys
XM_017009967.1:c.14178G>C XP_016865456.1:p.Trp4726Cys
XM_017009968.2:c.14274G>C XP_016865457.1:p.Trp4758Cys
XM_017009969.2:c.14274G>C XP_016865458.1:p.Trp4758Cys
XM_017009970.2:c.14274G>C XP_016865459.1:p.Trp4758Cys
XM_017009971.2:c.14274G>C XP_016865460.1:p.Trp4758Cys
XM_017009972.1:c.7392G>C XP_016865461.1:p.Trp2464Cys
XM_017009973.1:c.7371G>C XP_016865462.1:p.Trp2457Cys