Canonical Allele Identifier: CA3341445
Community Standard Title: NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90781477C>A , CM000667.2:g.90781477C>A GRCh38
NC_000005.9:g.90077294C>A , CM000667.1:g.90077294C>A GRCh37
NC_000005.8:g.90113050C>A NCBI36
NG_007083.1:g.227678C>A
NG_007083.2:g.257134C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.13130C>A MANE Select NP_115495.3:p.Pro4377His
ENST00000405460.9:c.13130C>A MANE Select ENSP00000384582.2:p.Pro4377His
NM_032119.3:c.13130C>A NP_115495.3:p.Pro4377His
NR_003149.1:n.13143C>A
NR_003149.2:n.13146C>A
ENST00000405460.6:c.13130C>A ENSP00000384582.2:p.Pro4377His
ENST00000425867.2:c.113C>A ENSP00000392618.2:p.Pro38His
ENST00000425867.3:c.2084C>A ENSP00000392618.3:p.Pro695His
ENST00000638510.1:n.397C>A
ENST00000639431.1:c.265+105268C>A ENSP00000491057.1:n.265+105268C>A
XM_011543675.1:c.13127C>A XP_011541977.1:p.Pro4376His
XM_011543676.1:c.13049C>A XP_011541978.1:p.Pro4350His
XM_011543677.1:c.10433C>A XP_011541979.1:p.Pro3478His
XM_011543678.1:c.13130C>A XP_011541980.1:p.Pro4377His
XM_017009963.2:c.13151C>A XP_016865452.1:p.Pro4384His
XM_017009964.2:c.13148C>A XP_016865453.1:p.Pro4383His
XM_017009965.1:c.13148C>A XP_016865454.1:p.Pro4383His
XM_017009966.2:c.13070C>A XP_016865455.1:p.Pro4357His
XM_017009967.1:c.13055C>A XP_016865456.1:p.Pro4352His
XM_017009968.2:c.13151C>A XP_016865457.1:p.Pro4384His
XM_017009969.2:c.13151C>A XP_016865458.1:p.Pro4384His
XM_017009970.2:c.13151C>A XP_016865459.1:p.Pro4384His
XM_017009971.2:c.13151C>A XP_016865460.1:p.Pro4384His
XM_017009972.1:c.6269C>A XP_016865461.1:p.Pro2090His
XM_017009973.1:c.6248C>A XP_016865462.1:p.Pro2083His