Canonical Allele Identifier: CA3340421
Community Standard Title: NM_032119.4(ADGRV1):c.9042G>C (p.Met3014Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90711322G>C , CM000667.2:g.90711322G>C GRCh38
NC_000005.9:g.90007139G>C , CM000667.1:g.90007139G>C GRCh37
NC_000005.8:g.90042895G>C NCBI36
NG_007083.1:g.157523G>C
NG_007083.2:g.186979G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.9042G>C MANE Select NP_115495.3:p.Met3014Ile
ENST00000405460.9:c.9042G>C MANE Select ENSP00000384582.2:p.Met3014Ile
NM_032119.3:c.9042G>C NP_115495.3:p.Met3014Ile
NR_003149.1:n.9055G>C
NR_003149.2:n.9058G>C
ENST00000405460.6:c.9042G>C ENSP00000384582.2:p.Met3014Ile
ENST00000509621.1:c.1739G>C
ENST00000639431.1:c.265+35113G>C ENSP00000491057.1:n.265+35113G>C
ENST00000639473.1:n.4501G>C
ENST00000640012.1:c.2849G>C
ENST00000640374.1:n.2186G>C
ENST00000640779.1:c.3771G>C
XM_011543675.1:c.9039G>C XP_011541977.1:p.Met3013Ile
XM_011543676.1:c.8961G>C XP_011541978.1:p.Met2987Ile
XM_011543677.1:c.6345G>C XP_011541979.1:p.Met2115Ile
XM_011543678.1:c.9042G>C XP_011541980.1:p.Met3014Ile
XM_011543679.1:c.9042G>C XP_011541981.1:p.Met3014Ile
XM_017009963.2:c.9063G>C XP_016865452.1:p.Met3021Ile
XM_017009964.2:c.9060G>C XP_016865453.1:p.Met3020Ile
XM_017009965.1:c.9060G>C XP_016865454.1:p.Met3020Ile
XM_017009966.2:c.8982G>C XP_016865455.1:p.Met2994Ile
XM_017009967.1:c.8967G>C XP_016865456.1:p.Met2989Ile
XM_017009968.2:c.9063G>C XP_016865457.1:p.Met3021Ile
XM_017009969.2:c.9063G>C XP_016865458.1:p.Met3021Ile
XM_017009970.2:c.9063G>C XP_016865459.1:p.Met3021Ile
XM_017009971.2:c.9063G>C XP_016865460.1:p.Met3021Ile
XM_017009972.1:c.2181G>C XP_016865461.1:p.Met727Ile
XM_017009973.1:c.2160G>C XP_016865462.1:p.Met720Ile
XM_017009974.2:c.9063G>C XP_016865463.1:p.Met3021Ile