Canonical Allele Identifier: CA360425538

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 3088226
• ClinVar RCV Id: RCV004380133
• MyVariant Identifiers: chr5:g.90119289C>T (hg19) ; chr5:g.90823472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823472C>T , CM000667.2:g.90823472C>T	GRCh38
NC_000005.9:g.90119289C>T , CM000667.1:g.90119289C>T	GRCh37
NC_000005.8:g.90155045C>T	NCBI36
NG_007083.1:g.269673C>T
NG_007083.2:g.299129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16244C>T MANE Select	ENSP00000384582.2:p.Thr5415Ile
ENST00000425867.3:c.5198C>T	ENSP00000392618.3:p.Thr1733Ile
ENST00000638510.1:n.3511C>T
ENST00000639431.1:c.265+147263C>T	ENSP00000491057.1:n.265+147263C>T
ENST00000640061.1:n.128+1290C>T
ENST00000640407.1:c.2654C>T	ENSP00000491425.1:p.Thr885Ile
ENST00000405460.6:c.16244C>T	ENSP00000384582.2:p.Thr5415Ile
ENST00000425867.2:c.3227C>T	ENSP00000392618.2:p.Thr1076Ile
NM_032119.3:c.16244C>T	NP_115495.3:p.Thr5415Ile
NR_003149.1:n.16257C>T
XM_011543675.1:c.16241C>T	XP_011541977.1:p.Thr5414Ile
XM_011543676.1:c.16163C>T	XP_011541978.1:p.Thr5388Ile
XM_011543677.1:c.13547C>T	XP_011541979.1:p.Thr4516Ile
NM_032119.4:c.16244C>T MANE Select	NP_115495.3:p.Thr5415Ile
XM_017009963.2:c.16265C>T	XP_016865452.1:p.Thr5422Ile
XM_017009964.2:c.16262C>T	XP_016865453.1:p.Thr5421Ile
XM_017009965.1:c.16262C>T	XP_016865454.1:p.Thr5421Ile
XM_017009966.2:c.16184C>T	XP_016865455.1:p.Thr5395Ile
XM_017009967.1:c.16169C>T	XP_016865456.1:p.Thr5390Ile
XM_017009968.2:c.16085C>T	XP_016865457.1:p.Thr5362Ile
XM_017009969.2:c.16265C>T	XP_016865458.1:p.Thr5422Ile
XM_017009972.1:c.9383C>T	XP_016865461.1:p.Thr3128Ile
XM_017009973.1:c.9362C>T	XP_016865462.1:p.Thr3121Ile
NR_003149.2:n.16260C>T