Canonical Allele Identifier: CA360367144

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755140-G-A
• COSMIC: COSM3618659
• MyVariant Identifiers: chr5:g.90050957G>A (hg19) ; chr5:g.90755140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755140G>A , CM000667.2:g.90755140G>A	GRCh38
NC_000005.9:g.90050957G>A , CM000667.1:g.90050957G>A	GRCh37
NC_000005.8:g.90086713G>A	NCBI36
NG_007083.1:g.201341G>A
NG_007083.2:g.230797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11535G>A MANE Select	ENSP00000384582.2:p.Met3845Ile
ENST00000425867.3:c.666G>A	ENSP00000392618.3:p.Met222Ile
ENST00000639431.1:c.265+78931G>A	ENSP00000491057.1:n.265+78931G>A
ENST00000640374.1:n.4679G>A
ENST00000640464.1:n.1954G>A
ENST00000405460.6:c.11535G>A	ENSP00000384582.2:p.Met3845Ile
ENST00000509621.1:c.4232G>A
NM_032119.3:c.11535G>A	NP_115495.3:p.Met3845Ile
NR_003149.1:n.11548G>A
XM_011543675.1:c.11532G>A	XP_011541977.1:p.Met3844Ile
XM_011543676.1:c.11454G>A	XP_011541978.1:p.Met3818Ile
XM_011543677.1:c.8838G>A	XP_011541979.1:p.Met2946Ile
XM_011543678.1:c.11535G>A	XP_011541980.1:p.Met3845Ile
NM_032119.4:c.11535G>A MANE Select	NP_115495.3:p.Met3845Ile
XM_017009963.2:c.11556G>A	XP_016865452.1:p.Met3852Ile
XM_017009964.2:c.11553G>A	XP_016865453.1:p.Met3851Ile
XM_017009965.1:c.11553G>A	XP_016865454.1:p.Met3851Ile
XM_017009966.2:c.11475G>A	XP_016865455.1:p.Met3825Ile
XM_017009967.1:c.11460G>A	XP_016865456.1:p.Met3820Ile
XM_017009968.2:c.11556G>A	XP_016865457.1:p.Met3852Ile
XM_017009969.2:c.11556G>A	XP_016865458.1:p.Met3852Ile
XM_017009970.2:c.11556G>A	XP_016865459.1:p.Met3852Ile
XM_017009971.2:c.11556G>A	XP_016865460.1:p.Met3852Ile
XM_017009972.1:c.4674G>A	XP_016865461.1:p.Met1558Ile
XM_017009973.1:c.4653G>A	XP_016865462.1:p.Met1551Ile
NR_003149.2:n.11551G>A