Canonical Allele Identifier: CA360408948

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1405016451
• gnomAD v2: 5-90041452-T-C
• gnomAD v3: 5-90745635-T-C
• gnomAD v4: 5-90745635-T-C
• MyVariant Identifiers: chr5:g.90041452T>C (hg19) ; chr5:g.90745635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745635T>C , CM000667.2:g.90745635T>C	GRCh38
NC_000005.9:g.90041452T>C , CM000667.1:g.90041452T>C	GRCh37
NC_000005.8:g.90077208T>C	NCBI36
NG_007083.1:g.191836T>C
NG_007083.2:g.221292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10814T>C MANE Select	ENSP00000384582.2:p.Ile3605Thr
ENST00000639431.1:c.265+69426T>C	ENSP00000491057.1:n.265+69426T>C
ENST00000640374.1:n.3958T>C
ENST00000640464.1:n.1233T>C
ENST00000405460.6:c.10814T>C	ENSP00000384582.2:p.Ile3605Thr
ENST00000509621.1:c.3511T>C
NM_032119.3:c.10814T>C	NP_115495.3:p.Ile3605Thr
NR_003149.1:n.10827T>C
XM_011543675.1:c.10811T>C	XP_011541977.1:p.Ile3604Thr
XM_011543676.1:c.10733T>C	XP_011541978.1:p.Ile3578Thr
XM_011543677.1:c.8117T>C	XP_011541979.1:p.Ile2706Thr
XM_011543678.1:c.10814T>C	XP_011541980.1:p.Ile3605Thr
XM_011543679.1:c.*36T>C	XP_011541981.1:n.*36T>C
NM_032119.4:c.10814T>C MANE Select	NP_115495.3:p.Ile3605Thr
XM_017009963.2:c.10835T>C	XP_016865452.1:p.Ile3612Thr
XM_017009964.2:c.10832T>C	XP_016865453.1:p.Ile3611Thr
XM_017009965.1:c.10832T>C	XP_016865454.1:p.Ile3611Thr
XM_017009966.2:c.10754T>C	XP_016865455.1:p.Ile3585Thr
XM_017009967.1:c.10739T>C	XP_016865456.1:p.Ile3580Thr
XM_017009968.2:c.10835T>C	XP_016865457.1:p.Ile3612Thr
XM_017009969.2:c.10835T>C	XP_016865458.1:p.Ile3612Thr
XM_017009970.2:c.10835T>C	XP_016865459.1:p.Ile3612Thr
XM_017009971.2:c.10835T>C	XP_016865460.1:p.Ile3612Thr
XM_017009972.1:c.3953T>C	XP_016865461.1:p.Ile1318Thr
XM_017009973.1:c.3932T>C	XP_016865462.1:p.Ile1311Thr
XM_017009974.2:c.*36T>C	XP_016865463.1:n.*36T>C
NR_003149.2:n.10830T>C