Canonical Allele Identifier: CA3338790
Community Standard Title: NM_032119.4(ADGRV1):c.1969A>C (p.Asn657His)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90635243A>C , CM000667.2:g.90635243A>C GRCh38
NC_000005.9:g.89931060A>C , CM000667.1:g.89931060A>C GRCh37
NC_000005.8:g.89966816A>C NCBI36
NG_007083.1:g.81444A>C
NG_007083.2:g.110900A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.1969A>C MANE Select NP_115495.3:p.Asn657His
ENST00000405460.9:c.1969A>C MANE Select ENSP00000384582.2:p.Asn657His
NM_032119.3:c.1969A>C NP_115495.3:p.Asn657His
NR_003149.1:n.2065A>C
NR_003149.2:n.2068A>C
ENST00000405460.6:c.1969A>C ENSP00000384582.2:p.Asn657His
ENST00000504142.1:c.734A>C
ENST00000504142.2:n.735A>C
XM_011543675.1:c.1969A>C XP_011541977.1:p.Asn657His
XM_011543676.1:c.1969A>C XP_011541978.1:p.Asn657His
XM_011543678.1:c.1969A>C XP_011541980.1:p.Asn657His
XM_011543679.1:c.1969A>C XP_011541981.1:p.Asn657His
XM_017009963.2:c.1969A>C XP_016865452.1:p.Asn657His
XM_017009964.2:c.1969A>C XP_016865453.1:p.Asn657His
XM_017009965.1:c.1966A>C XP_016865454.1:p.Asn656His
XM_017009966.2:c.1969A>C XP_016865455.1:p.Asn657His
XM_017009967.1:c.1873A>C XP_016865456.1:p.Asn625His
XM_017009968.2:c.1969A>C XP_016865457.1:p.Asn657His
XM_017009969.2:c.1969A>C XP_016865458.1:p.Asn657His
XM_017009970.2:c.1969A>C XP_016865459.1:p.Asn657His
XM_017009971.2:c.1969A>C XP_016865460.1:p.Asn657His
XM_017009974.2:c.1969A>C XP_016865463.1:p.Asn657His