Canonical Allele Identifier: CA3341876
Gene: ADGRV1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285387
dbSNP Id: rs183633457
gnomAD v2: 5-90106246-C-T
gnomAD v3: 5-90810429-C-T
gnomAD v4: 5-90810429-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90810429C>T , CM000667.2:g.90810429C>T GRCh38
NC_000005.9:g.90106246C>T , CM000667.1:g.90106246C>T GRCh37
NC_000005.8:g.90142002C>T NCBI36
NG_007083.1:g.256630C>T
NG_007083.2:g.286086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.15169C>T MANE Select ENSP00000384582.2:p.Pro5057Ser
ENST00000425867.3:c.4123C>T ENSP00000392618.3:p.Pro1375Ser
ENST00000638510.1:n.2436C>T
ENST00000638585.1:n.624C>T
ENST00000639431.1:c.265+134220C>T ENSP00000491057.1:n.265+134220C>T
ENST00000640407.1:c.1579C>T ENSP00000491425.1:p.Pro527Ser
ENST00000405460.6:c.15169C>T ENSP00000384582.2:p.Pro5057Ser
ENST00000425867.2:c.2152C>T ENSP00000392618.2:p.Pro718Ser
NM_032119.3:c.15169C>T NP_115495.3:p.Pro5057Ser
NR_003149.1:n.15182C>T
XM_011543675.1:c.15166C>T XP_011541977.1:p.Pro5056Ser
XM_011543676.1:c.15088C>T XP_011541978.1:p.Pro5030Ser
XM_011543677.1:c.12472C>T XP_011541979.1:p.Pro4158Ser
NM_032119.4:c.15169C>T MANE Select NP_115495.3:p.Pro5057Ser
XM_017009963.2:c.15190C>T XP_016865452.1:p.Pro5064Ser
XM_017009964.2:c.15187C>T XP_016865453.1:p.Pro5063Ser
XM_017009965.1:c.15187C>T XP_016865454.1:p.Pro5063Ser
XM_017009966.2:c.15109C>T XP_016865455.1:p.Pro5037Ser
XM_017009967.1:c.15094C>T XP_016865456.1:p.Pro5032Ser
XM_017009968.2:c.15010C>T XP_016865457.1:p.Pro5004Ser
XM_017009969.2:c.15190C>T XP_016865458.1:p.Pro5064Ser
XM_017009971.2:c.*123C>T XP_016865460.1:n.*123C>T
XM_017009972.1:c.8308C>T XP_016865461.1:p.Pro2770Ser
XM_017009973.1:c.8287C>T XP_016865462.1:p.Pro2763Ser
NR_003149.2:n.15185C>T