Canonical Allele Identifier: CA360397525

Gene: ADGRV1

Linked Data

• COSMIC: COSM6275224
• MyVariant Identifiers: chr5:g.90012460G>T (hg19) ; chr5:g.90716643G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716643G>T , CM000667.2:g.90716643G>T	GRCh38
NC_000005.9:g.90012460G>T , CM000667.1:g.90012460G>T	GRCh37
NC_000005.8:g.90048216G>T	NCBI36
NG_007083.1:g.162844G>T
NG_007083.2:g.192300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9361G>T MANE Select	ENSP00000384582.2:p.Val3121Leu
ENST00000639431.1:c.265+40434G>T	ENSP00000491057.1:n.265+40434G>T
ENST00000639473.1:n.4820G>T
ENST00000640012.1:c.3168G>T
ENST00000640374.1:n.2505G>T
ENST00000640779.1:c.4090G>T
ENST00000405460.6:c.9361G>T	ENSP00000384582.2:p.Val3121Leu
ENST00000509621.1:c.2058G>T
NM_032119.3:c.9361G>T	NP_115495.3:p.Val3121Leu
NR_003149.1:n.9374G>T
XM_011543675.1:c.9358G>T	XP_011541977.1:p.Val3120Leu
XM_011543676.1:c.9280G>T	XP_011541978.1:p.Val3094Leu
XM_011543677.1:c.6664G>T	XP_011541979.1:p.Val2222Leu
XM_011543678.1:c.9361G>T	XP_011541980.1:p.Val3121Leu
XM_011543679.1:c.9361G>T	XP_011541981.1:p.Val3121Leu
XR_948560.1:n.272-834C>A
NM_032119.4:c.9361G>T MANE Select	NP_115495.3:p.Val3121Leu
XM_017009963.2:c.9382G>T	XP_016865452.1:p.Val3128Leu
XM_017009964.2:c.9379G>T	XP_016865453.1:p.Val3127Leu
XM_017009965.1:c.9379G>T	XP_016865454.1:p.Val3127Leu
XM_017009966.2:c.9301G>T	XP_016865455.1:p.Val3101Leu
XM_017009967.1:c.9286G>T	XP_016865456.1:p.Val3096Leu
XM_017009968.2:c.9382G>T	XP_016865457.1:p.Val3128Leu
XM_017009969.2:c.9382G>T	XP_016865458.1:p.Val3128Leu
XM_017009970.2:c.9382G>T	XP_016865459.1:p.Val3128Leu
XM_017009971.2:c.9382G>T	XP_016865460.1:p.Val3128Leu
XM_017009972.1:c.2500G>T	XP_016865461.1:p.Val834Leu
XM_017009973.1:c.2479G>T	XP_016865462.1:p.Val827Leu
XM_017009974.2:c.9382G>T	XP_016865463.1:p.Val3128Leu
XR_001742802.1:n.2523-834C>A
NR_003149.2:n.9377G>T