Canonical Allele Identifier: CA123027083
Community Standard Title: NM_032119.4(ADGRV1):c.18379G>A (p.Ala6127Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91102287G>A , CM000667.2:g.91102287G>A GRCh38
NC_000005.9:g.90398104G>A , CM000667.1:g.90398104G>A GRCh37
NC_000005.8:g.90433860G>A NCBI36
NG_007083.1:g.548488G>A
NG_007083.2:g.577944G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.18379G>A MANE Select NP_115495.3:p.Ala6127Thr
ENST00000405460.9:c.18379G>A MANE Select ENSP00000384582.2:p.Ala6127Thr
NM_032119.3:c.18379G>A NP_115495.3:p.Ala6127Thr
NR_003149.1:n.18392G>A
NR_003149.2:n.18395G>A
ENST00000405460.6:c.18379G>A ENSP00000384582.2:p.Ala6127Thr
ENST00000425867.2:c.5362G>A ENSP00000392618.2:p.Ala1788Thr
ENST00000425867.3:c.7333G>A ENSP00000392618.3:p.Ala2445Thr
ENST00000638510.1:n.5646G>A
ENST00000638990.1:c.1591G>A
ENST00000639212.1:n.299G>A
ENST00000639530.1:n.247G>A
ENST00000639821.1:c.463G>A ENSP00000492216.1:p.Ala155Thr
ENST00000640256.1:n.247G>A
ENST00000640407.1:c.4828G>A ENSP00000491425.1:n.4828G>A
ENST00000640815.1:c.463G>A ENSP00000491767.1:p.Ala155Thr
XM_011543675.1:c.18376G>A XP_011541977.1:p.Ala6126Thr
XM_011543676.1:c.18298G>A XP_011541978.1:p.Ala6100Thr
XM_011543677.1:c.15682G>A XP_011541979.1:p.Ala5228Thr
XM_017009963.2:c.18400G>A XP_016865452.1:p.Ala6134Thr
XM_017009964.2:c.18397G>A XP_016865453.1:p.Ala6133Thr
XM_017009965.1:c.18397G>A XP_016865454.1:p.Ala6133Thr
XM_017009966.2:c.18319G>A XP_016865455.1:p.Ala6107Thr
XM_017009967.1:c.18304G>A XP_016865456.1:p.Ala6102Thr
XM_017009968.2:c.18220G>A XP_016865457.1:p.Ala6074Thr
XM_017009969.2:c.18400G>A XP_016865458.1:p.Ala6134Thr
XM_017009972.1:c.11518G>A XP_016865461.1:p.Ala3840Thr
XM_017009973.1:c.11497G>A XP_016865462.1:p.Ala3833Thr