Canonical Allele Identifier: CA3342598
Community Standard Title: NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91072523G>A , CM000667.2:g.91072523G>A GRCh38
NC_000005.9:g.90368340G>A , CM000667.1:g.90368340G>A GRCh37
NC_000005.8:g.90404096G>A NCBI36
NG_007083.1:g.518724G>A
NG_007083.2:g.548180G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.18229G>A MANE Select NP_115495.3:p.Val6077Met
ENST00000405460.9:c.18229G>A MANE Select ENSP00000384582.2:p.Val6077Met
NM_032119.3:c.18229G>A NP_115495.3:p.Val6077Met
NR_003149.1:n.18242G>A
NR_003149.2:n.18245G>A
ENST00000405460.6:c.18229G>A ENSP00000384582.2:p.Val6077Met
ENST00000425867.2:c.5212G>A ENSP00000392618.2:p.Val1738Met
ENST00000425867.3:c.7183G>A ENSP00000392618.3:p.Val2395Met
ENST00000638510.1:n.5496G>A
ENST00000638990.1:c.1441G>A
ENST00000639431.1:c.521G>A ENSP00000491057.1:n.521G>A
ENST00000639707.1:c.313G>A ENSP00000492328.1:p.Val105Met
ENST00000639821.1:c.313G>A ENSP00000492216.1:p.Val105Met
ENST00000640369.1:c.313G>A ENSP00000491401.1:p.Val105Met
ENST00000640407.1:c.4678G>A ENSP00000491425.1:n.4678G>A
ENST00000640815.1:c.313G>A ENSP00000491767.1:p.Val105Met
XM_011543675.1:c.18226G>A XP_011541977.1:p.Val6076Met
XM_011543676.1:c.18148G>A XP_011541978.1:p.Val6050Met
XM_011543677.1:c.15532G>A XP_011541979.1:p.Val5178Met
XM_017009963.2:c.18250G>A XP_016865452.1:p.Val6084Met
XM_017009964.2:c.18247G>A XP_016865453.1:p.Val6083Met
XM_017009965.1:c.18247G>A XP_016865454.1:p.Val6083Met
XM_017009966.2:c.18169G>A XP_016865455.1:p.Val6057Met
XM_017009967.1:c.18154G>A XP_016865456.1:p.Val6052Met
XM_017009968.2:c.18070G>A XP_016865457.1:p.Val6024Met
XM_017009969.2:c.18250G>A XP_016865458.1:p.Val6084Met
XM_017009972.1:c.11368G>A XP_016865461.1:p.Val3790Met
XM_017009973.1:c.11347G>A XP_016865462.1:p.Val3783Met