Canonical Allele Identifier: CA561259591
Community Standard Title: NM_032119.4(ADGRV1):c.4378+11T>C
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653963T>C , CM000667.2:g.90653963T>C GRCh38
NC_000005.9:g.89949780T>C , CM000667.1:g.89949780T>C GRCh37
NC_000005.8:g.89985536T>C NCBI36
NG_007083.1:g.100164T>C
NG_007083.2:g.129620T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.4378+11T>C MANE Select NP_115495.3:n.4378+11T>C
ENST00000405460.9:c.4378+11T>C MANE Select ENSP00000384582.2:n.4378+11T>C
NM_032119.3:c.4378+11T>C NP_115495.3:n.4378+11T>C
NR_003149.1:n.4474+11T>C
NR_003149.2:n.4477+11T>C
ENST00000405460.6:c.4378+11T>C ENSP00000384582.2:n.4378+11T>C
ENST00000504142.1:c.3154T>C
ENST00000504142.2:n.3155T>C
ENST00000639676.1:n.1976+11T>C
ENST00000640403.1:c.1669+11T>C ENSP00000492531.1:n.1669+11T>C
XM_011543675.1:c.4378+11T>C XP_011541977.1:n.4378+11T>C
XM_011543676.1:c.4378+11T>C XP_011541978.1:n.4378+11T>C
XM_011543677.1:c.1681+11T>C XP_011541979.1:n.1681+11T>C
XM_011543678.1:c.4378+11T>C XP_011541980.1:n.4378+11T>C
XM_011543679.1:c.4378+11T>C XP_011541981.1:n.4378+11T>C
XM_017009963.2:c.4378+11T>C XP_016865452.1:n.4378+11T>C
XM_017009964.2:c.4378+11T>C XP_016865453.1:n.4378+11T>C
XM_017009965.1:c.4375+11T>C XP_016865454.1:n.4375+11T>C
XM_017009966.2:c.4378+11T>C XP_016865455.1:n.4378+11T>C
XM_017009967.1:c.4282+11T>C XP_016865456.1:n.4282+11T>C
XM_017009968.2:c.4378+11T>C XP_016865457.1:n.4378+11T>C
XM_017009969.2:c.4378+11T>C XP_016865458.1:n.4378+11T>C
XM_017009970.2:c.4378+11T>C XP_016865459.1:n.4378+11T>C
XM_017009971.2:c.4378+11T>C XP_016865460.1:n.4378+11T>C
XM_017009974.2:c.4378+11T>C XP_016865463.1:n.4378+11T>C