Canonical Allele Identifier: CA360403016
Community Standard Title: NM_032119.4(ADGRV1):c.14517+1G>T
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90791347G>T , CM000667.2:g.90791347G>T GRCh38
NC_000005.9:g.90087164G>T , CM000667.1:g.90087164G>T GRCh37
NC_000005.8:g.90122920G>T NCBI36
NG_007083.1:g.237548G>T
NG_007083.2:g.267004G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.14517+1G>T MANE Select NP_115495.3:n.14517+1G>T
ENST00000405460.9:c.14517+1G>T MANE Select ENSP00000384582.2:n.14517+1G>T
NM_032119.3:c.14517+1G>T NP_115495.3:n.14517+1G>T
NR_003149.1:n.14530+1G>T
NR_003149.2:n.14533+1G>T
ENST00000405460.6:c.14517+1G>T ENSP00000384582.2:n.14517+1G>T
ENST00000425867.2:c.1500+1G>T ENSP00000392618.2:n.1500+1G>T
ENST00000425867.3:c.3471+1G>T ENSP00000392618.3:n.3471+1G>T
ENST00000507314.1:n.192+1G>T
ENST00000507314.2:c.192+1G>T ENSP00000491299.1:n.192+1G>T
ENST00000638510.1:n.1784+1G>T
ENST00000638585.1:n.283+1G>T
ENST00000638975.1:c.1147G>T ENSP00000492630.1:p.Val383Phe
ENST00000639431.1:c.265+115138G>T ENSP00000491057.1:n.265+115138G>T
ENST00000640407.1:c.927+1G>T ENSP00000491425.1:n.927+1G>T
XM_011543675.1:c.14514+1G>T XP_011541977.1:n.14514+1G>T
XM_011543676.1:c.14436+1G>T XP_011541978.1:n.14436+1G>T
XM_011543677.1:c.11820+1G>T XP_011541979.1:n.11820+1G>T
XM_011543678.1:c.14517+1G>T XP_011541980.1:n.14517+1G>T
XM_017009963.2:c.14538+1G>T XP_016865452.1:n.14538+1G>T
XM_017009964.2:c.14535+1G>T XP_016865453.1:n.14535+1G>T
XM_017009965.1:c.14535+1G>T XP_016865454.1:n.14535+1G>T
XM_017009966.2:c.14457+1G>T XP_016865455.1:n.14457+1G>T
XM_017009967.1:c.14442+1G>T XP_016865456.1:n.14442+1G>T
XM_017009968.2:c.14538+1G>T XP_016865457.1:n.14538+1G>T
XM_017009969.2:c.14538+1G>T XP_016865458.1:n.14538+1G>T
XM_017009970.2:c.14538+1G>T XP_016865459.1:n.14538+1G>T
XM_017009971.2:c.14538+1G>T XP_016865460.1:n.14538+1G>T
XM_017009972.1:c.7656+1G>T XP_016865461.1:n.7656+1G>T
XM_017009973.1:c.7635+1G>T XP_016865462.1:n.7635+1G>T