Canonical Allele Identifier: CA2695206234

Gene: PNPLA1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36291531_36291532delinsTC , CM000668.2:g.36291531_36291532delinsTC	GRCh38
NC_000006.11:g.36259308_36259309delinsTC , CM000668.1:g.36259308_36259309delinsTC	GRCh37
NC_000006.10:g.36367286_36367287delinsTC	NCBI36
NG_032813.1:g.53364_53365delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636260.2:c.417_418delinsTC MANE Select	ENSP00000490785.2:p.Ser140Pro
ENST00000312917.9:c.132_133delinsTC	ENSP00000321116.5:p.Ser45Pro
ENST00000388715.7:c.132_133delinsTC	ENSP00000373367.3:p.Ser45Pro
ENST00000394571.3:c.417_418delinsTC	ENSP00000378072.2:p.Ser140Pro
ENST00000457797.5:c.417_418delinsTC	ENSP00000391868.1:p.Ser140Pro
NM_001145716.2:c.132_133delinsTC	NP_001139188.1:p.Ser45Pro
NM_001145717.1:c.417_418delinsTC	NP_001139189.2:p.Ser140Pro
NM_173676.2:c.132_133delinsTC	NP_775947.2:p.Ser45Pro
XM_011514519.1:c.417_418delinsTC	XP_011512821.1:p.Ser140Pro
XM_011514520.1:c.132_133delinsTC	XP_011512822.1:p.Ser45Pro
XM_011514521.1:c.132_133delinsTC	XP_011512823.1:p.Ser45Pro
XM_011514522.1:c.132_133delinsTC	XP_011512824.1:p.Ser45Pro
XM_011514524.1:c.23_24delinsTC	XP_011512826.1:p.Arg8Leu
XM_011514525.1:c.417_418delinsTC	XP_011512827.1:p.Ser140Pro
XM_011514526.1:c.417_418delinsTC	XP_011512828.1:p.Ser140Pro
XM_011514519.2:c.417_418delinsTC	XP_011512821.1:p.Ser140Pro
XM_011514520.2:c.132_133delinsTC	XP_011512822.1:p.Ser45Pro
XM_017010776.1:c.417_418delinsTC	XP_016866265.1:p.Ser140Pro
XM_017010777.2:c.417_418delinsTC	XP_016866266.1:p.Ser140Pro
XM_017010778.1:c.132_133delinsTC	XP_016866267.1:p.Ser45Pro
NM_001374623.1:c.417_418delinsTC MANE Select	NP_001361552.1:p.Ser140Pro