Canonical Allele Identifier: CA445407274
Gene: ADGRV1 HGNC NCBI

Linked Data

dbSNP Id: rs1763575812
MyVariant Identifiers: chr5:g.89913759T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90617942T>C , CM000667.2:g.90617942T>C GRCh38
NC_000005.9:g.89913759T>C , CM000667.1:g.89913759T>C GRCh37
NC_000005.8:g.89949515T>C NCBI36
NG_007083.1:g.64143T>C
NG_007083.2:g.93599T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.346T>C MANE Select ENSP00000384582.2:p.Leu116=
ENST00000638316.1:n.556T>C
ENST00000638638.1:n.753T>C
ENST00000640083.1:n.51T>C
ENST00000640109.1:n.442T>C
ENST00000640281.1:n.405T>C
ENST00000405460.6:c.346T>C ENSP00000384582.2:p.Leu116=
ENST00000508842.5:c.358T>C ENSP00000425936.1:p.Leu120=
NM_032119.3:c.346T>C NP_115495.3:p.Leu116=
NR_003149.1:n.442T>C
XM_011543675.1:c.346T>C XP_011541977.1:p.Leu116=
XM_011543676.1:c.346T>C XP_011541978.1:p.Leu116=
XM_011543678.1:c.346T>C XP_011541980.1:p.Leu116=
XM_011543679.1:c.346T>C XP_011541981.1:p.Leu116=
NM_032119.4:c.346T>C MANE Select NP_115495.3:p.Leu116=
XM_017009963.2:c.346T>C XP_016865452.1:p.Leu116=
XM_017009964.2:c.346T>C XP_016865453.1:p.Leu116=
XM_017009965.1:c.343T>C XP_016865454.1:p.Leu115=
XM_017009966.2:c.346T>C XP_016865455.1:p.Leu116=
XM_017009967.1:c.346T>C XP_016865456.1:p.Leu116=
XM_017009968.2:c.346T>C XP_016865457.1:p.Leu116=
XM_017009969.2:c.346T>C XP_016865458.1:p.Leu116=
XM_017009970.2:c.346T>C XP_016865459.1:p.Leu116=
XM_017009971.2:c.346T>C XP_016865460.1:p.Leu116=
XM_017009974.2:c.346T>C XP_016865463.1:p.Leu116=
NR_003149.2:n.445T>C