Canonical Allele Identifier: CA445416094

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1183893505
• gnomAD v2: 5-90041477-A-T
• gnomAD v3: 5-90745660-A-T
• gnomAD v4: 5-90745660-A-T
• MyVariant Identifiers: chr5:g.90041477A>T (hg19) ; chr5:g.90745660A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745660A>T , CM000667.2:g.90745660A>T	GRCh38
NC_000005.9:g.90041477A>T , CM000667.1:g.90041477A>T	GRCh37
NC_000005.8:g.90077233A>T	NCBI36
NG_007083.1:g.191861A>T
NG_007083.2:g.221317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10839A>T MANE Select	ENSP00000384582.2:p.Thr3613=
ENST00000639431.1:c.265+69451A>T	ENSP00000491057.1:n.265+69451A>T
ENST00000640374.1:n.3983A>T
ENST00000640464.1:n.1258A>T
ENST00000405460.6:c.10839A>T	ENSP00000384582.2:p.Thr3613=
ENST00000509621.1:c.3536A>T
NM_032119.3:c.10839A>T	NP_115495.3:p.Thr3613=
NR_003149.1:n.10852A>T
XM_011543675.1:c.10836A>T	XP_011541977.1:p.Thr3612=
XM_011543676.1:c.10758A>T	XP_011541978.1:p.Thr3586=
XM_011543677.1:c.8142A>T	XP_011541979.1:p.Thr2714=
XM_011543678.1:c.10839A>T	XP_011541980.1:p.Thr3613=
XM_011543679.1:c.*61A>T	XP_011541981.1:n.*61A>T
NM_032119.4:c.10839A>T MANE Select	NP_115495.3:p.Thr3613=
XM_017009963.2:c.10860A>T	XP_016865452.1:p.Thr3620=
XM_017009964.2:c.10857A>T	XP_016865453.1:p.Thr3619=
XM_017009965.1:c.10857A>T	XP_016865454.1:p.Thr3619=
XM_017009966.2:c.10779A>T	XP_016865455.1:p.Thr3593=
XM_017009967.1:c.10764A>T	XP_016865456.1:p.Thr3588=
XM_017009968.2:c.10860A>T	XP_016865457.1:p.Thr3620=
XM_017009969.2:c.10860A>T	XP_016865458.1:p.Thr3620=
XM_017009970.2:c.10860A>T	XP_016865459.1:p.Thr3620=
XM_017009971.2:c.10860A>T	XP_016865460.1:p.Thr3620=
XM_017009972.1:c.3978A>T	XP_016865461.1:p.Thr1326=
XM_017009973.1:c.3957A>T	XP_016865462.1:p.Thr1319=
XM_017009974.2:c.*61A>T	XP_016865463.1:n.*61A>T
NR_003149.2:n.10855A>T