Canonical Allele Identifier: CA360373188
Community Standard Title: NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90759418A>G , CM000667.2:g.90759418A>G GRCh38
NC_000005.9:g.90055235A>G , CM000667.1:g.90055235A>G GRCh37
NC_000005.8:g.90090991A>G NCBI36
NG_007083.1:g.205619A>G
NG_007083.2:g.235075A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.11950A>G MANE Select NP_115495.3:p.Met3984Val
ENST00000405460.9:c.11950A>G MANE Select ENSP00000384582.2:p.Met3984Val
NM_032119.3:c.11950A>G NP_115495.3:p.Met3984Val
NR_003149.1:n.11963A>G
NR_003149.2:n.11966A>G
ENST00000405460.6:c.11950A>G ENSP00000384582.2:p.Met3984Val
ENST00000425867.3:c.904A>G ENSP00000392618.3:p.Met302Val
ENST00000509621.1:c.4647A>G
ENST00000639431.1:c.265+83209A>G ENSP00000491057.1:n.265+83209A>G
ENST00000639884.1:n.604A>G
ENST00000640374.1:n.4917A>G
ENST00000640464.1:n.2369A>G
XM_011543675.1:c.11947A>G XP_011541977.1:p.Met3983Val
XM_011543676.1:c.11869A>G XP_011541978.1:p.Met3957Val
XM_011543677.1:c.9253A>G XP_011541979.1:p.Met3085Val
XM_011543678.1:c.11950A>G XP_011541980.1:p.Met3984Val
XM_017009963.2:c.11971A>G XP_016865452.1:p.Met3991Val
XM_017009964.2:c.11968A>G XP_016865453.1:p.Met3990Val
XM_017009965.1:c.11968A>G XP_016865454.1:p.Met3990Val
XM_017009966.2:c.11890A>G XP_016865455.1:p.Met3964Val
XM_017009967.1:c.11875A>G XP_016865456.1:p.Met3959Val
XM_017009968.2:c.11971A>G XP_016865457.1:p.Met3991Val
XM_017009969.2:c.11971A>G XP_016865458.1:p.Met3991Val
XM_017009970.2:c.11971A>G XP_016865459.1:p.Met3991Val
XM_017009971.2:c.11971A>G XP_016865460.1:p.Met3991Val
XM_017009972.1:c.5089A>G XP_016865461.1:p.Met1697Val
XM_017009973.1:c.5068A>G XP_016865462.1:p.Met1690Val