Canonical Allele Identifier: CA3341226
Community Standard Title: NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90774269A>G , CM000667.2:g.90774269A>G GRCh38
NC_000005.9:g.90070086A>G , CM000667.1:g.90070086A>G GRCh37
NC_000005.8:g.90105842A>G NCBI36
NG_007083.1:g.220470A>G
NG_007083.2:g.249926A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12369A>G MANE Select NP_115495.3:p.Ile4123Met
ENST00000405460.9:c.12369A>G MANE Select ENSP00000384582.2:p.Ile4123Met
NM_032119.3:c.12369A>G NP_115495.3:p.Ile4123Met
NR_003149.1:n.12382A>G
NR_003149.2:n.12385A>G
ENST00000405460.6:c.12369A>G ENSP00000384582.2:p.Ile4123Met
ENST00000425867.3:c.1323A>G ENSP00000392618.3:p.Ile441Met
ENST00000639431.1:c.265+98060A>G ENSP00000491057.1:n.265+98060A>G
ENST00000640464.1:n.2788A>G
ENST00000640729.1:n.946A>G
XM_011543675.1:c.12366A>G XP_011541977.1:p.Ile4122Met
XM_011543676.1:c.12288A>G XP_011541978.1:p.Ile4096Met
XM_011543677.1:c.9672A>G XP_011541979.1:p.Ile3224Met
XM_011543678.1:c.12369A>G XP_011541980.1:p.Ile4123Met
XM_017009963.2:c.12390A>G XP_016865452.1:p.Ile4130Met
XM_017009964.2:c.12387A>G XP_016865453.1:p.Ile4129Met
XM_017009965.1:c.12387A>G XP_016865454.1:p.Ile4129Met
XM_017009966.2:c.12309A>G XP_016865455.1:p.Ile4103Met
XM_017009967.1:c.12294A>G XP_016865456.1:p.Ile4098Met
XM_017009968.2:c.12390A>G XP_016865457.1:p.Ile4130Met
XM_017009969.2:c.12390A>G XP_016865458.1:p.Ile4130Met
XM_017009970.2:c.12390A>G XP_016865459.1:p.Ile4130Met
XM_017009971.2:c.12390A>G XP_016865460.1:p.Ile4130Met
XM_017009972.1:c.5508A>G XP_016865461.1:p.Ile1836Met
XM_017009973.1:c.5487A>G XP_016865462.1:p.Ile1829Met