Canonical Allele Identifier: CA3339961

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 2874439
• ClinVar RCV Id: RCV003714485
• dbSNP Id: rs751390243
• ExAC: 5:89988539 A / T
• gnomAD v2: 5-89988539-A-T
• gnomAD v3: 5-90692722-A-T
• gnomAD v4: 5-90692722-A-T
• MyVariant Identifiers: chr5:g.89988539A>T (hg19) ; chr5:g.90692722A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692722A>T , CM000667.2:g.90692722A>T	GRCh38
NC_000005.9:g.89988539A>T , CM000667.1:g.89988539A>T	GRCh37
NC_000005.8:g.90024295A>T	NCBI36
NG_007083.1:g.138923A>T
NG_007083.2:g.168379A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7069A>T MANE Select	ENSP00000384582.2:p.Met2357Leu
ENST00000639431.1:c.265+16513A>T	ENSP00000491057.1:n.265+16513A>T
ENST00000639473.1:n.2528A>T
ENST00000640012.1:c.876A>T
ENST00000640374.1:n.213A>T
ENST00000640403.1:c.4360A>T	ENSP00000492531.1:p.Met1454Leu
ENST00000640779.1:c.1798A>T
ENST00000405460.6:c.7069A>T	ENSP00000384582.2:p.Met2357Leu
NM_032119.3:c.7069A>T	NP_115495.3:p.Met2357Leu
NR_003149.1:n.7082A>T
XM_011543675.1:c.7066A>T	XP_011541977.1:p.Met2356Leu
XM_011543676.1:c.6988A>T	XP_011541978.1:p.Met2330Leu
XM_011543677.1:c.4372A>T	XP_011541979.1:p.Met1458Leu
XM_011543678.1:c.7069A>T	XP_011541980.1:p.Met2357Leu
XM_011543679.1:c.7069A>T	XP_011541981.1:p.Met2357Leu
NM_032119.4:c.7069A>T MANE Select	NP_115495.3:p.Met2357Leu
XM_017009963.2:c.7069A>T	XP_016865452.1:p.Met2357Leu
XM_017009964.2:c.7066A>T	XP_016865453.1:p.Met2356Leu
XM_017009965.1:c.7066A>T	XP_016865454.1:p.Met2356Leu
XM_017009966.2:c.6988A>T	XP_016865455.1:p.Met2330Leu
XM_017009967.1:c.6973A>T	XP_016865456.1:p.Met2325Leu
XM_017009968.2:c.7069A>T	XP_016865457.1:p.Met2357Leu
XM_017009969.2:c.7069A>T	XP_016865458.1:p.Met2357Leu
XM_017009970.2:c.7069A>T	XP_016865459.1:p.Met2357Leu
XM_017009971.2:c.7069A>T	XP_016865460.1:p.Met2357Leu
XM_017009972.1:c.187A>T	XP_016865461.1:p.Met63Leu
XM_017009973.1:c.187A>T	XP_016865462.1:p.Met63Leu
XM_017009974.2:c.7069A>T	XP_016865463.1:p.Met2357Leu
NR_003149.2:n.7085A>T