Canonical Allele Identifier: CA360408883

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041437A>T (hg19) ; chr5:g.90745620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745620A>T , CM000667.2:g.90745620A>T	GRCh38
NC_000005.9:g.90041437A>T , CM000667.1:g.90041437A>T	GRCh37
NC_000005.8:g.90077193A>T	NCBI36
NG_007083.1:g.191821A>T
NG_007083.2:g.221277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10799A>T MANE Select	ENSP00000384582.2:p.Glu3600Val
ENST00000639431.1:c.265+69411A>T	ENSP00000491057.1:n.265+69411A>T
ENST00000640374.1:n.3943A>T
ENST00000640464.1:n.1218A>T
ENST00000405460.6:c.10799A>T	ENSP00000384582.2:p.Glu3600Val
ENST00000509621.1:c.3496A>T
NM_032119.3:c.10799A>T	NP_115495.3:p.Glu3600Val
NR_003149.1:n.10812A>T
XM_011543675.1:c.10796A>T	XP_011541977.1:p.Glu3599Val
XM_011543676.1:c.10718A>T	XP_011541978.1:p.Glu3573Val
XM_011543677.1:c.8102A>T	XP_011541979.1:p.Glu2701Val
XM_011543678.1:c.10799A>T	XP_011541980.1:p.Glu3600Val
XM_011543679.1:c.*21A>T	XP_011541981.1:n.*21A>T
NM_032119.4:c.10799A>T MANE Select	NP_115495.3:p.Glu3600Val
XM_017009963.2:c.10820A>T	XP_016865452.1:p.Glu3607Val
XM_017009964.2:c.10817A>T	XP_016865453.1:p.Glu3606Val
XM_017009965.1:c.10817A>T	XP_016865454.1:p.Glu3606Val
XM_017009966.2:c.10739A>T	XP_016865455.1:p.Glu3580Val
XM_017009967.1:c.10724A>T	XP_016865456.1:p.Glu3575Val
XM_017009968.2:c.10820A>T	XP_016865457.1:p.Glu3607Val
XM_017009969.2:c.10820A>T	XP_016865458.1:p.Glu3607Val
XM_017009970.2:c.10820A>T	XP_016865459.1:p.Glu3607Val
XM_017009971.2:c.10820A>T	XP_016865460.1:p.Glu3607Val
XM_017009972.1:c.3938A>T	XP_016865461.1:p.Glu1313Val
XM_017009973.1:c.3917A>T	XP_016865462.1:p.Glu1306Val
XM_017009974.2:c.*21A>T	XP_016865463.1:n.*21A>T
NR_003149.2:n.10815A>T