Canonical Allele Identifier: CA3341629
Community Standard Title: NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90788285C>T , CM000667.2:g.90788285C>T GRCh38
NC_000005.9:g.90084102C>T , CM000667.1:g.90084102C>T GRCh37
NC_000005.8:g.90119858C>T NCBI36
NG_007083.1:g.234486C>T
NG_007083.2:g.263942C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13868C>T MANE Select NP_115495.3:p.Ser4623Phe
ENST00000405460.9:c.13868C>T MANE Select ENSP00000384582.2:p.Ser4623Phe
NM_032119.3:c.13868C>T NP_115495.3:p.Ser4623Phe
NR_003149.1:n.13881C>T
NR_003149.2:n.13884C>T
ENST00000405460.6:c.13868C>T ENSP00000384582.2:p.Ser4623Phe
ENST00000425867.2:c.851C>T ENSP00000392618.2:p.Ser284Phe
ENST00000425867.3:c.2822C>T ENSP00000392618.3:p.Ser941Phe
ENST00000638510.1:n.1135C>T
ENST00000638975.1:c.497C>T ENSP00000492630.1:p.Ser166Phe
ENST00000639431.1:c.265+112076C>T ENSP00000491057.1:n.265+112076C>T
ENST00000640407.1:c.278C>T ENSP00000491425.1:p.Ser93Phe
XM_011543675.1:c.13865C>T XP_011541977.1:p.Ser4622Phe
XM_011543676.1:c.13787C>T XP_011541978.1:p.Ser4596Phe
XM_011543677.1:c.11171C>T XP_011541979.1:p.Ser3724Phe
XM_011543678.1:c.13868C>T XP_011541980.1:p.Ser4623Phe
XM_017009963.2:c.13889C>T XP_016865452.1:p.Ser4630Phe
XM_017009964.2:c.13886C>T XP_016865453.1:p.Ser4629Phe
XM_017009965.1:c.13886C>T XP_016865454.1:p.Ser4629Phe
XM_017009966.2:c.13808C>T XP_016865455.1:p.Ser4603Phe
XM_017009967.1:c.13793C>T XP_016865456.1:p.Ser4598Phe
XM_017009968.2:c.13889C>T XP_016865457.1:p.Ser4630Phe
XM_017009969.2:c.13889C>T XP_016865458.1:p.Ser4630Phe
XM_017009970.2:c.13889C>T XP_016865459.1:p.Ser4630Phe
XM_017009971.2:c.13889C>T XP_016865460.1:p.Ser4630Phe
XM_017009972.1:c.7007C>T XP_016865461.1:p.Ser2336Phe
XM_017009973.1:c.6986C>T XP_016865462.1:p.Ser2329Phe