Canonical Allele Identifier: CA360371622

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.89988545T>C (hg19) ; chr5:g.90692728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692728T>C , CM000667.2:g.90692728T>C	GRCh38
NC_000005.9:g.89988545T>C , CM000667.1:g.89988545T>C	GRCh37
NC_000005.8:g.90024301T>C	NCBI36
NG_007083.1:g.138929T>C
NG_007083.2:g.168385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.7075T>C MANE Select	ENSP00000384582.2:p.Tyr2359His
ENST00000639431.1:c.265+16519T>C	ENSP00000491057.1:n.265+16519T>C
ENST00000639473.1:n.2534T>C
ENST00000640012.1:c.882T>C
ENST00000640374.1:n.219T>C
ENST00000640403.1:c.4366T>C	ENSP00000492531.1:p.Tyr1456His
ENST00000640779.1:c.1804T>C
ENST00000405460.6:c.7075T>C	ENSP00000384582.2:p.Tyr2359His
NM_032119.3:c.7075T>C	NP_115495.3:p.Tyr2359His
NR_003149.1:n.7088T>C
XM_011543675.1:c.7072T>C	XP_011541977.1:p.Tyr2358His
XM_011543676.1:c.6994T>C	XP_011541978.1:p.Tyr2332His
XM_011543677.1:c.4378T>C	XP_011541979.1:p.Tyr1460His
XM_011543678.1:c.7075T>C	XP_011541980.1:p.Tyr2359His
XM_011543679.1:c.7075T>C	XP_011541981.1:p.Tyr2359His
NM_032119.4:c.7075T>C MANE Select	NP_115495.3:p.Tyr2359His
XM_017009963.2:c.7075T>C	XP_016865452.1:p.Tyr2359His
XM_017009964.2:c.7072T>C	XP_016865453.1:p.Tyr2358His
XM_017009965.1:c.7072T>C	XP_016865454.1:p.Tyr2358His
XM_017009966.2:c.6994T>C	XP_016865455.1:p.Tyr2332His
XM_017009967.1:c.6979T>C	XP_016865456.1:p.Tyr2327His
XM_017009968.2:c.7075T>C	XP_016865457.1:p.Tyr2359His
XM_017009969.2:c.7075T>C	XP_016865458.1:p.Tyr2359His
XM_017009970.2:c.7075T>C	XP_016865459.1:p.Tyr2359His
XM_017009971.2:c.7075T>C	XP_016865460.1:p.Tyr2359His
XM_017009972.1:c.193T>C	XP_016865461.1:p.Tyr65His
XM_017009973.1:c.193T>C	XP_016865462.1:p.Tyr65His
XM_017009974.2:c.7075T>C	XP_016865463.1:p.Tyr2359His
NR_003149.2:n.7091T>C