Canonical Allele Identifier: CA3342780
Community Standard Title: NM_032119.4(ADGRV1):c.*17C>T
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.91163917C>T , CM000667.2:g.91163917C>T GRCh38
NC_000005.9:g.90459734C>T , CM000667.1:g.90459734C>T GRCh37
NC_000005.8:g.90495490C>T NCBI36
NG_007083.1:g.610118C>T
NG_007083.2:g.639574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.*17C>T MANE Select NP_115495.3:n.*17C>T
ENST00000405460.9:c.*17C>T MANE Select ENSP00000384582.2:n.*17C>T
NM_032119.3:c.*17C>T NP_115495.3:n.*17C>T
NR_003149.1:n.18951C>T
NR_003149.2:n.18954C>T
ENST00000405460.6:c.*17C>T ENSP00000384582.2:n.*17C>T
ENST00000425867.2:c.*17C>T ENSP00000392618.2:n.*17C>T
ENST00000425867.3:c.7892C>T ENSP00000392618.3:n.7892C>T
ENST00000638510.1:n.6205C>T
ENST00000638990.1:c.2150C>T
ENST00000639212.1:n.858C>T
ENST00000639530.1:n.806C>T
ENST00000639821.1:c.*73C>T ENSP00000492216.1:n.*73C>T
ENST00000640256.1:n.614C>T
ENST00000640407.1:c.5387C>T ENSP00000491425.1:n.5387C>T
ENST00000640815.1:c.*17C>T ENSP00000491767.1:n.*17C>T
XM_011543675.1:c.*17C>T XP_011541977.1:n.*17C>T
XM_011543676.1:c.*17C>T XP_011541978.1:n.*17C>T
XM_011543677.1:c.*17C>T XP_011541979.1:n.*17C>T
XM_017009963.2:c.*17C>T XP_016865452.1:n.*17C>T
XM_017009964.2:c.*17C>T XP_016865453.1:n.*17C>T
XM_017009965.1:c.*17C>T XP_016865454.1:n.*17C>T
XM_017009966.2:c.*17C>T XP_016865455.1:n.*17C>T
XM_017009967.1:c.*17C>T XP_016865456.1:n.*17C>T
XM_017009968.2:c.*17C>T XP_016865457.1:n.*17C>T
XM_017009969.2:c.*73C>T XP_016865458.1:n.*73C>T
XM_017009972.1:c.*17C>T XP_016865461.1:n.*17C>T
XM_017009973.1:c.*17C>T XP_016865462.1:n.*17C>T
XR_001742795.1:n.225-11729G>A
XR_001742796.1:n.225-27923G>A
XR_001742797.1:n.225-2613G>A