Canonical Allele Identifier: CA360378546

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90059244A>T (hg19) ; chr5:g.90763427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763427A>T , CM000667.2:g.90763427A>T	GRCh38
NC_000005.9:g.90059244A>T , CM000667.1:g.90059244A>T	GRCh37
NC_000005.8:g.90095000A>T	NCBI36
NG_007083.1:g.209628A>T
NG_007083.2:g.239084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12243A>T MANE Select	ENSP00000384582.2:p.Lys4081Asn
ENST00000425867.3:c.1197A>T	ENSP00000392618.3:p.Lys399Asn
ENST00000639431.1:c.265+87218A>T	ENSP00000491057.1:n.265+87218A>T
ENST00000640464.1:n.2662A>T
ENST00000640729.1:n.820A>T
ENST00000405460.6:c.12243A>T	ENSP00000384582.2:p.Lys4081Asn
NM_032119.3:c.12243A>T	NP_115495.3:p.Lys4081Asn
NR_003149.1:n.12256A>T
XM_011543675.1:c.12240A>T	XP_011541977.1:p.Lys4080Asn
XM_011543676.1:c.12162A>T	XP_011541978.1:p.Lys4054Asn
XM_011543677.1:c.9546A>T	XP_011541979.1:p.Lys3182Asn
XM_011543678.1:c.12243A>T	XP_011541980.1:p.Lys4081Asn
NM_032119.4:c.12243A>T MANE Select	NP_115495.3:p.Lys4081Asn
XM_017009963.2:c.12264A>T	XP_016865452.1:p.Lys4088Asn
XM_017009964.2:c.12261A>T	XP_016865453.1:p.Lys4087Asn
XM_017009965.1:c.12261A>T	XP_016865454.1:p.Lys4087Asn
XM_017009966.2:c.12183A>T	XP_016865455.1:p.Lys4061Asn
XM_017009967.1:c.12168A>T	XP_016865456.1:p.Lys4056Asn
XM_017009968.2:c.12264A>T	XP_016865457.1:p.Lys4088Asn
XM_017009969.2:c.12264A>T	XP_016865458.1:p.Lys4088Asn
XM_017009970.2:c.12264A>T	XP_016865459.1:p.Lys4088Asn
XM_017009971.2:c.12264A>T	XP_016865460.1:p.Lys4088Asn
XM_017009972.1:c.5382A>T	XP_016865461.1:p.Lys1794Asn
XM_017009973.1:c.5361A>T	XP_016865462.1:p.Lys1787Asn
NR_003149.2:n.12259A>T