Canonical Allele Identifier: CA360425518

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119280T>A (hg19) ; chr5:g.90823463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823463T>A , CM000667.2:g.90823463T>A	GRCh38
NC_000005.9:g.90119280T>A , CM000667.1:g.90119280T>A	GRCh37
NC_000005.8:g.90155036T>A	NCBI36
NG_007083.1:g.269664T>A
NG_007083.2:g.299120T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16235T>A MANE Select	ENSP00000384582.2:p.Leu5412His
ENST00000425867.3:c.5189T>A	ENSP00000392618.3:p.Leu1730His
ENST00000638510.1:n.3502T>A
ENST00000639431.1:c.265+147254T>A	ENSP00000491057.1:n.265+147254T>A
ENST00000640061.1:n.128+1281T>A
ENST00000640407.1:c.2645T>A	ENSP00000491425.1:p.Leu882His
ENST00000405460.6:c.16235T>A	ENSP00000384582.2:p.Leu5412His
ENST00000425867.2:c.3218T>A	ENSP00000392618.2:p.Leu1073His
NM_032119.3:c.16235T>A	NP_115495.3:p.Leu5412His
NR_003149.1:n.16248T>A
XM_011543675.1:c.16232T>A	XP_011541977.1:p.Leu5411His
XM_011543676.1:c.16154T>A	XP_011541978.1:p.Leu5385His
XM_011543677.1:c.13538T>A	XP_011541979.1:p.Leu4513His
NM_032119.4:c.16235T>A MANE Select	NP_115495.3:p.Leu5412His
XM_017009963.2:c.16256T>A	XP_016865452.1:p.Leu5419His
XM_017009964.2:c.16253T>A	XP_016865453.1:p.Leu5418His
XM_017009965.1:c.16253T>A	XP_016865454.1:p.Leu5418His
XM_017009966.2:c.16175T>A	XP_016865455.1:p.Leu5392His
XM_017009967.1:c.16160T>A	XP_016865456.1:p.Leu5387His
XM_017009968.2:c.16076T>A	XP_016865457.1:p.Leu5359His
XM_017009969.2:c.16256T>A	XP_016865458.1:p.Leu5419His
XM_017009972.1:c.9374T>A	XP_016865461.1:p.Leu3125His
XM_017009973.1:c.9353T>A	XP_016865462.1:p.Leu3118His
NR_003149.2:n.16251T>A