Canonical Allele Identifier: CA363805265

Gene: PNPLA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36270559G>C , CM000668.2:g.36270559G>C	GRCh38
NC_000006.11:g.36238336G>C , CM000668.1:g.36238336G>C	GRCh37
NC_000006.10:g.36346314G>C	NCBI36
NG_032813.1:g.32392G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001374623.1:c.100G>C MANE Select	NP_001361552.1:p.Ala34Pro
ENST00000636260.2:c.100G>C MANE Select	ENSP00000490785.2:p.Ala34Pro
NM_001145716.2:c.-80-20761G>C	NP_001139188.1:n.-80-20761G>C
NM_001145717.1:c.100G>C	NP_001139189.2:p.Ala34Pro
NM_173676.2:c.-80-20761G>C	NP_775947.2:n.-80-20761G>C
ENST00000312917.9:c.-80-20761G>C	ENSP00000321116.5:n.-80-20761G>C
ENST00000388715.7:c.-80-20761G>C	ENSP00000373367.3:n.-80-20761G>C
ENST00000394571.3:c.100G>C	ENSP00000378072.2:p.Ala34Pro
ENST00000457797.5:c.100G>C	ENSP00000391868.1:p.Ala34Pro
XM_011514519.1:c.100G>C	XP_011512821.1:p.Ala34Pro
XM_011514519.2:c.100G>C	XP_011512821.1:p.Ala34Pro
XM_011514520.1:c.-80-20761G>C	XP_011512822.1:n.-80-20761G>C
XM_011514520.2:c.-80-20761G>C	XP_011512822.1:n.-80-20761G>C
XM_011514521.1:c.-80-20761G>C	XP_011512823.1:n.-80-20761G>C
XM_011514525.1:c.100G>C	XP_011512827.1:p.Ala34Pro
XM_011514526.1:c.100G>C	XP_011512828.1:p.Ala34Pro
XM_017010776.1:c.100G>C	XP_016866265.1:p.Ala34Pro
XM_017010777.2:c.100G>C	XP_016866266.1:p.Ala34Pro
XM_017010778.1:c.-80-20761G>C	XP_016866267.1:n.-80-20761G>C