Canonical Allele Identifier: CA3342767
Community Standard Title: NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91163858C>T , CM000667.2:g.91163858C>T GRCh38
NC_000005.9:g.90459675C>T , CM000667.1:g.90459675C>T GRCh37
NC_000005.8:g.90495431C>T NCBI36
NG_007083.1:g.610059C>T
NG_007083.2:g.639515C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.18879C>T MANE Select NP_115495.3:p.Ile6293=
ENST00000405460.9:c.18879C>T MANE Select ENSP00000384582.2:p.Ile6293=
NM_032119.3:c.18879C>T NP_115495.3:p.Ile6293=
NR_003149.1:n.18892C>T
NR_003149.2:n.18895C>T
ENST00000405460.6:c.18879C>T ENSP00000384582.2:p.Ile6293=
ENST00000425867.2:c.5862C>T ENSP00000392618.2:p.Ile1954=
ENST00000425867.3:c.7833C>T ENSP00000392618.3:p.Ile2611=
ENST00000638510.1:n.6146C>T
ENST00000638990.1:c.2091C>T
ENST00000639212.1:n.799C>T
ENST00000639530.1:n.747C>T
ENST00000639821.1:c.*14C>T ENSP00000492216.1:n.*14C>T
ENST00000640256.1:n.555C>T
ENST00000640407.1:c.5328C>T ENSP00000491425.1:n.5328C>T
ENST00000640815.1:c.963C>T ENSP00000491767.1:p.Ile321=
XM_011543675.1:c.18876C>T XP_011541977.1:p.Ile6292=
XM_011543676.1:c.18798C>T XP_011541978.1:p.Ile6266=
XM_011543677.1:c.16182C>T XP_011541979.1:p.Ile5394=
XM_017009963.2:c.18900C>T XP_016865452.1:p.Ile6300=
XM_017009964.2:c.18897C>T XP_016865453.1:p.Ile6299=
XM_017009965.1:c.18897C>T XP_016865454.1:p.Ile6299=
XM_017009966.2:c.18819C>T XP_016865455.1:p.Ile6273=
XM_017009967.1:c.18804C>T XP_016865456.1:p.Ile6268=
XM_017009968.2:c.18720C>T XP_016865457.1:p.Ile6240=
XM_017009969.2:c.*14C>T XP_016865458.1:n.*14C>T
XM_017009972.1:c.12018C>T XP_016865461.1:p.Ile4006=
XM_017009973.1:c.11997C>T XP_016865462.1:p.Ile3999=
XR_001742795.1:n.225-11670G>A
XR_001742796.1:n.225-27864G>A
XR_001742797.1:n.225-2554G>A