Canonical Allele Identifier: CA3342100

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2083781
• ClinVar RCV Id: RCV003002781
• dbSNP Id: rs759224370
• ExAC: 5:90119307 A / T
• gnomAD v2: 5-90119307-A-T
• gnomAD v4: 5-90823490-A-T
• MyVariant Identifiers: chr5:g.90119307A>T (hg19) ; chr5:g.90823490A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823490A>T , CM000667.2:g.90823490A>T	GRCh38
NC_000005.9:g.90119307A>T , CM000667.1:g.90119307A>T	GRCh37
NC_000005.8:g.90155063A>T	NCBI36
NG_007083.1:g.269691A>T
NG_007083.2:g.299147A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16262A>T MANE Select	ENSP00000384582.2:p.Lys5421Met
ENST00000425867.3:c.5216A>T	ENSP00000392618.3:p.Lys1739Met
ENST00000638510.1:n.3529A>T
ENST00000639431.1:c.265+147281A>T	ENSP00000491057.1:n.265+147281A>T
ENST00000640061.1:n.128+1308A>T
ENST00000640407.1:c.2672A>T	ENSP00000491425.1:p.Lys891Met
ENST00000405460.6:c.16262A>T	ENSP00000384582.2:p.Lys5421Met
ENST00000425867.2:c.3245A>T	ENSP00000392618.2:p.Lys1082Met
NM_032119.3:c.16262A>T	NP_115495.3:p.Lys5421Met
NR_003149.1:n.16275A>T
XM_011543675.1:c.16259A>T	XP_011541977.1:p.Lys5420Met
XM_011543676.1:c.16181A>T	XP_011541978.1:p.Lys5394Met
XM_011543677.1:c.13565A>T	XP_011541979.1:p.Lys4522Met
NM_032119.4:c.16262A>T MANE Select	NP_115495.3:p.Lys5421Met
XM_017009963.2:c.16283A>T	XP_016865452.1:p.Lys5428Met
XM_017009964.2:c.16280A>T	XP_016865453.1:p.Lys5427Met
XM_017009965.1:c.16280A>T	XP_016865454.1:p.Lys5427Met
XM_017009966.2:c.16202A>T	XP_016865455.1:p.Lys5401Met
XM_017009967.1:c.16187A>T	XP_016865456.1:p.Lys5396Met
XM_017009968.2:c.16103A>T	XP_016865457.1:p.Lys5368Met
XM_017009969.2:c.16283A>T	XP_016865458.1:p.Lys5428Met
XM_017009972.1:c.9401A>T	XP_016865461.1:p.Lys3134Met
XM_017009973.1:c.9380A>T	XP_016865462.1:p.Lys3127Met
NR_003149.2:n.16278A>T