Canonical Allele Identifier: CA276756583
Gene: PKD1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2135616C>A
GRCh37 chr16:g.2185617C>A
Revel Score:
ENST00000262304 (MANE Select) 0.016
ENST00000423118 0.016
ENST00000306101 0.016
gnomAD v2:
16:2185617 C / A
gnomAD v3:
16:2135616 C / A
gnomAD v4:
chr16-2135616-C-A
Joint Max Group AF 0.00059337 (NFE)
Genomes Max Group AF 0.00044449 (NFE)
Exomes Max Group AF 0.00059538 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2135616C>A , CM000678.2:g.2135616C>A GRCh38
NC_000016.9:g.2185617C>A , CM000678.1:g.2185617C>A GRCh37
NC_000016.8:g.2125618C>A NCBI36
NG_008617.1:g.5283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.74G>T MANE Select ENSP00000262304.4:p.Gly25Val
ENST00000262304.8:c.74G>T ENSP00000262304.4:p.Gly25Val
ENST00000423118.5:c.74G>T ENSP00000399501.1:p.Gly25Val
NM_000296.3:c.74G>T NP_000287.3:p.Gly25Val
NM_001009944.2:c.74G>T NP_001009944.2:p.Gly25Val
XM_011522530.1:c.74G>T XP_011520832.1:p.Gly25Val
XM_011522532.1:c.74G>T XP_011520834.1:p.Gly25Val
XM_024450298.1:c.74G>T XP_024306066.1:p.Gly25Val
XM_024450299.1:c.74G>T XP_024306067.1:p.Gly25Val
NM_000296.4:c.74G>T NP_000287.4:p.Gly25Val
NM_001009944.3:c.74G>T MANE Select NP_001009944.3:p.Gly25Val
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