Canonical Allele Identifier: CA360393385
Community Standard Title: NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90708834G>T , CM000667.2:g.90708834G>T GRCh38
NC_000005.9:g.90004651G>T , CM000667.1:g.90004651G>T GRCh37
NC_000005.8:g.90040407G>T NCBI36
NG_007083.1:g.155035G>T
NG_007083.2:g.184491G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.8749G>T MANE Select NP_115495.3:p.Glu2917Ter
ENST00000405460.9:c.8749G>T MANE Select ENSP00000384582.2:p.Glu2917Ter
NM_032119.3:c.8749G>T NP_115495.3:p.Glu2917Ter
NR_003149.1:n.8762G>T
NR_003149.2:n.8765G>T
ENST00000405460.6:c.8749G>T ENSP00000384582.2:p.Glu2917Ter
ENST00000509621.1:c.1446G>T
ENST00000639431.1:c.265+32625G>T ENSP00000491057.1:n.265+32625G>T
ENST00000639473.1:n.4208G>T
ENST00000640012.1:c.2556G>T
ENST00000640374.1:n.1893G>T
ENST00000640403.1:c.6040G>T ENSP00000492531.1:p.Glu2014Ter
ENST00000640779.1:c.3478G>T
XM_011543675.1:c.8746G>T XP_011541977.1:p.Glu2916Ter
XM_011543676.1:c.8668G>T XP_011541978.1:p.Glu2890Ter
XM_011543677.1:c.6052G>T XP_011541979.1:p.Glu2018Ter
XM_011543678.1:c.8749G>T XP_011541980.1:p.Glu2917Ter
XM_011543679.1:c.8749G>T XP_011541981.1:p.Glu2917Ter
XM_017009963.2:c.8770G>T XP_016865452.1:p.Glu2924Ter
XM_017009964.2:c.8767G>T XP_016865453.1:p.Glu2923Ter
XM_017009965.1:c.8767G>T XP_016865454.1:p.Glu2923Ter
XM_017009966.2:c.8689G>T XP_016865455.1:p.Glu2897Ter
XM_017009967.1:c.8674G>T XP_016865456.1:p.Glu2892Ter
XM_017009968.2:c.8770G>T XP_016865457.1:p.Glu2924Ter
XM_017009969.2:c.8770G>T XP_016865458.1:p.Glu2924Ter
XM_017009970.2:c.8770G>T XP_016865459.1:p.Glu2924Ter
XM_017009971.2:c.8770G>T XP_016865460.1:p.Glu2924Ter
XM_017009972.1:c.1888G>T XP_016865461.1:p.Glu630Ter
XM_017009973.1:c.1867G>T XP_016865462.1:p.Glu623Ter
XM_017009974.2:c.8770G>T XP_016865463.1:p.Glu2924Ter