Canonical Allele Identifier: CA360425683
Community Standard Title: NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90823549A>G , CM000667.2:g.90823549A>G GRCh38
NC_000005.9:g.90119366A>G , CM000667.1:g.90119366A>G GRCh37
NC_000005.8:g.90155122A>G NCBI36
NG_007083.1:g.269750A>G
NG_007083.2:g.299206A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16321A>G MANE Select NP_115495.3:p.Met5441Val
ENST00000405460.9:c.16321A>G MANE Select ENSP00000384582.2:p.Met5441Val
NM_032119.3:c.16321A>G NP_115495.3:p.Met5441Val
NR_003149.1:n.16334A>G
NR_003149.2:n.16337A>G
ENST00000405460.6:c.16321A>G ENSP00000384582.2:p.Met5441Val
ENST00000425867.2:c.3304A>G ENSP00000392618.2:p.Met1102Val
ENST00000425867.3:c.5275A>G ENSP00000392618.3:p.Met1759Val
ENST00000638510.1:n.3588A>G
ENST00000639431.1:c.265+147340A>G ENSP00000491057.1:n.265+147340A>G
ENST00000640061.1:n.128+1367A>G
ENST00000640407.1:c.2731A>G ENSP00000491425.1:p.Met911Val
XM_011543675.1:c.16318A>G XP_011541977.1:p.Met5440Val
XM_011543676.1:c.16240A>G XP_011541978.1:p.Met5414Val
XM_011543677.1:c.13624A>G XP_011541979.1:p.Met4542Val
XM_017009963.2:c.16342A>G XP_016865452.1:p.Met5448Val
XM_017009964.2:c.16339A>G XP_016865453.1:p.Met5447Val
XM_017009965.1:c.16339A>G XP_016865454.1:p.Met5447Val
XM_017009966.2:c.16261A>G XP_016865455.1:p.Met5421Val
XM_017009967.1:c.16246A>G XP_016865456.1:p.Met5416Val
XM_017009968.2:c.16162A>G XP_016865457.1:p.Met5388Val
XM_017009969.2:c.16342A>G XP_016865458.1:p.Met5448Val
XM_017009972.1:c.9460A>G XP_016865461.1:p.Met3154Val
XM_017009973.1:c.9439A>G XP_016865462.1:p.Met3147Val