Canonical Allele Identifier: CA360431389
Community Standard Title: NM_032119.4(ADGRV1):c.17832G>C (p.Met5944Ile)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90863833G>C , CM000667.2:g.90863833G>C GRCh38
NC_000005.9:g.90159650G>C , CM000667.1:g.90159650G>C GRCh37
NC_000005.8:g.90195406G>C NCBI36
NG_007083.1:g.310034G>C
NG_007083.2:g.339490G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.17832G>C MANE Select NP_115495.3:p.Met5944Ile
ENST00000405460.9:c.17832G>C MANE Select ENSP00000384582.2:p.Met5944Ile
NM_032119.3:c.17832G>C NP_115495.3:p.Met5944Ile
NR_003149.1:n.17845G>C
NR_003149.2:n.17848G>C
ENST00000405460.6:c.17832G>C ENSP00000384582.2:p.Met5944Ile
ENST00000425867.2:c.4815G>C ENSP00000392618.2:p.Met1605Ile
ENST00000425867.3:c.6786G>C ENSP00000392618.3:p.Met2262Ile
ENST00000503852.1:n.380G>C
ENST00000638510.1:n.5099G>C
ENST00000638990.1:c.1044G>C
ENST00000639431.1:c.266-121511G>C ENSP00000491057.1:n.266-121511G>C
ENST00000640407.1:c.4281G>C ENSP00000491425.1:n.4281G>C
XM_011543675.1:c.17829G>C XP_011541977.1:p.Met5943Ile
XM_011543676.1:c.17751G>C XP_011541978.1:p.Met5917Ile
XM_011543677.1:c.15135G>C XP_011541979.1:p.Met5045Ile
XM_017009963.2:c.17853G>C XP_016865452.1:p.Met5951Ile
XM_017009964.2:c.17850G>C XP_016865453.1:p.Met5950Ile
XM_017009965.1:c.17850G>C XP_016865454.1:p.Met5950Ile
XM_017009966.2:c.17772G>C XP_016865455.1:p.Met5924Ile
XM_017009967.1:c.17757G>C XP_016865456.1:p.Met5919Ile
XM_017009968.2:c.17673G>C XP_016865457.1:p.Met5891Ile
XM_017009969.2:c.17853G>C XP_016865458.1:p.Met5951Ile
XM_017009972.1:c.10971G>C XP_016865461.1:p.Met3657Ile
XM_017009973.1:c.10950G>C XP_016865462.1:p.Met3650Ile