Canonical Allele Identifier: CA3777677
Gene: PNPLA1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.36291532T>C
GRCh37 chr6:g.36259309T>C
Revel Score:
ENST00000388715 0.516
ENST00000312917 0.516
ENST00000457797 0.516
ENST00000394571 0.516
gnomAD v2:
6:36259309 T / C
gnomAD v3:
6:36291532 T / C
gnomAD v4:
chr6-36291532-T-C
Joint Max Group AF 0.00001426 (NFE)
Genomes Max Group AF 0.00000537 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36291532T>C , CM000668.2:g.36291532T>C GRCh38
NC_000006.11:g.36259309T>C , CM000668.1:g.36259309T>C GRCh37
NC_000006.10:g.36367287T>C NCBI36
NG_032813.1:g.53365T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636260.2:c.418T>C MANE Select ENSP00000490785.2:p.Ser140Pro
ENST00000312917.9:c.133T>C ENSP00000321116.5:p.Ser45Pro
ENST00000388715.7:c.133T>C ENSP00000373367.3:p.Ser45Pro
ENST00000394571.3:c.418T>C ENSP00000378072.2:p.Ser140Pro
ENST00000457797.5:c.418T>C ENSP00000391868.1:p.Ser140Pro
NM_001145716.2:c.133T>C NP_001139188.1:p.Ser45Pro
NM_001145717.1:c.418T>C NP_001139189.2:p.Ser140Pro
NM_173676.2:c.133T>C NP_775947.2:p.Ser45Pro
XM_011514519.1:c.418T>C XP_011512821.1:p.Ser140Pro
XM_011514520.1:c.133T>C XP_011512822.1:p.Ser45Pro
XM_011514521.1:c.133T>C XP_011512823.1:p.Ser45Pro
XM_011514522.1:c.133T>C XP_011512824.1:p.Ser45Pro
XM_011514524.1:c.24T>C XP_011512826.1:p.Arg8=
XM_011514525.1:c.418T>C XP_011512827.1:p.Ser140Pro
XM_011514526.1:c.418T>C XP_011512828.1:p.Ser140Pro
XM_011514519.2:c.418T>C XP_011512821.1:p.Ser140Pro
XM_011514520.2:c.133T>C XP_011512822.1:p.Ser45Pro
XM_017010776.1:c.418T>C XP_016866265.1:p.Ser140Pro
XM_017010777.2:c.418T>C XP_016866266.1:p.Ser140Pro
XM_017010778.1:c.133T>C XP_016866267.1:p.Ser45Pro
NM_001374623.1:c.418T>C MANE Select NP_001361552.1:p.Ser140Pro
Search 100 bp 5'
Search 100 bp 3'