Canonical Allele Identifier: CA360410708
Community Standard Title: NM_032119.4(ADGRV1):c.15743C>G (p.Thr5248Ser)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90811003C>G , CM000667.2:g.90811003C>G GRCh38
NC_000005.9:g.90106820C>G , CM000667.1:g.90106820C>G GRCh37
NC_000005.8:g.90142576C>G NCBI36
NG_007083.1:g.257204C>G
NG_007083.2:g.286660C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.15743C>G MANE Select NP_115495.3:p.Thr5248Ser
ENST00000405460.9:c.15743C>G MANE Select ENSP00000384582.2:p.Thr5248Ser
NM_032119.3:c.15743C>G NP_115495.3:p.Thr5248Ser
NR_003149.1:n.15756C>G
NR_003149.2:n.15759C>G
ENST00000405460.6:c.15743C>G ENSP00000384582.2:p.Thr5248Ser
ENST00000425867.2:c.2726C>G ENSP00000392618.2:p.Thr909Ser
ENST00000425867.3:c.4697C>G ENSP00000392618.3:p.Thr1566Ser
ENST00000638510.1:n.3010C>G
ENST00000639431.1:c.265+134794C>G ENSP00000491057.1:n.265+134794C>G
ENST00000640407.1:c.2153C>G ENSP00000491425.1:p.Thr718Ser
XM_011543675.1:c.15740C>G XP_011541977.1:p.Thr5247Ser
XM_011543676.1:c.15662C>G XP_011541978.1:p.Thr5221Ser
XM_011543677.1:c.13046C>G XP_011541979.1:p.Thr4349Ser
XM_017009963.2:c.15764C>G XP_016865452.1:p.Thr5255Ser
XM_017009964.2:c.15761C>G XP_016865453.1:p.Thr5254Ser
XM_017009965.1:c.15761C>G XP_016865454.1:p.Thr5254Ser
XM_017009966.2:c.15683C>G XP_016865455.1:p.Thr5228Ser
XM_017009967.1:c.15668C>G XP_016865456.1:p.Thr5223Ser
XM_017009968.2:c.15584C>G XP_016865457.1:p.Thr5195Ser
XM_017009969.2:c.15764C>G XP_016865458.1:p.Thr5255Ser
XM_017009972.1:c.8882C>G XP_016865461.1:p.Thr2961Ser
XM_017009973.1:c.8861C>G XP_016865462.1:p.Thr2954Ser