Canonical Allele Identifier: CA360377336

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90763338-C-T
• MyVariant Identifiers: chr5:g.90059155C>T (hg19) ; chr5:g.90763338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90763338C>T , CM000667.2:g.90763338C>T	GRCh38
NC_000005.9:g.90059155C>T , CM000667.1:g.90059155C>T	GRCh37
NC_000005.8:g.90094911C>T	NCBI36
NG_007083.1:g.209539C>T
NG_007083.2:g.238995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.12154C>T MANE Select	ENSP00000384582.2:p.Pro4052Ser
ENST00000425867.3:c.1108C>T	ENSP00000392618.3:p.Pro370Ser
ENST00000639431.1:c.265+87129C>T	ENSP00000491057.1:n.265+87129C>T
ENST00000640464.1:n.2573C>T
ENST00000640729.1:n.731C>T
ENST00000405460.6:c.12154C>T	ENSP00000384582.2:p.Pro4052Ser
NM_032119.3:c.12154C>T	NP_115495.3:p.Pro4052Ser
NR_003149.1:n.12167C>T
XM_011543675.1:c.12151C>T	XP_011541977.1:p.Pro4051Ser
XM_011543676.1:c.12073C>T	XP_011541978.1:p.Pro4025Ser
XM_011543677.1:c.9457C>T	XP_011541979.1:p.Pro3153Ser
XM_011543678.1:c.12154C>T	XP_011541980.1:p.Pro4052Ser
NM_032119.4:c.12154C>T MANE Select	NP_115495.3:p.Pro4052Ser
XM_017009963.2:c.12175C>T	XP_016865452.1:p.Pro4059Ser
XM_017009964.2:c.12172C>T	XP_016865453.1:p.Pro4058Ser
XM_017009965.1:c.12172C>T	XP_016865454.1:p.Pro4058Ser
XM_017009966.2:c.12094C>T	XP_016865455.1:p.Pro4032Ser
XM_017009967.1:c.12079C>T	XP_016865456.1:p.Pro4027Ser
XM_017009968.2:c.12175C>T	XP_016865457.1:p.Pro4059Ser
XM_017009969.2:c.12175C>T	XP_016865458.1:p.Pro4059Ser
XM_017009970.2:c.12175C>T	XP_016865459.1:p.Pro4059Ser
XM_017009971.2:c.12175C>T	XP_016865460.1:p.Pro4059Ser
XM_017009972.1:c.5293C>T	XP_016865461.1:p.Pro1765Ser
XM_017009973.1:c.5272C>T	XP_016865462.1:p.Pro1758Ser
NR_003149.2:n.12170C>T