Canonical Allele Identifier: CA9140614

Gene: PNPLA6

Linked Data

• dbSNP Id: rs777058420
• ExAC: 19:7625945 G / T
• gnomAD v2: 19-7625945-G-T
• gnomAD v4: 19-7561059-G-T
• MyVariant Identifiers: chr19:g.7625945G>T (hg19) ; chr19:g.7561059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561059G>T , CM000681.2:g.7561059G>T	GRCh38
NC_000019.9:g.7625945G>T , CM000681.1:g.7625945G>T	GRCh37
NC_000019.8:g.7531945G>T	NCBI36
NG_013374.1:g.31908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3862G>T MANE Select	ENSP00000473211.1:p.Val1288Leu
ENST00000221249.10:c.3748G>T	ENSP00000221249.5:p.Val1250Leu
ENST00000414982.7:c.3892G>T	ENSP00000407509.2:p.Val1298Leu
ENST00000450331.7:c.3748G>T	ENSP00000394348.2:p.Val1250Leu
ENST00000545201.6:c.3667G>T	ENSP00000443323.1:p.Val1223Leu
ENST00000597202.1:n.220G>T
ENST00000599947.1:c.231G>T
ENST00000600737.5:c.3862G>T	ENSP00000473211.1:p.Val1288Leu
NM_001166111.1:c.3892G>T	NP_001159583.1:p.Val1298Leu
NM_001166112.1:c.3667G>T	NP_001159584.1:p.Val1223Leu
NM_001166113.1:c.3748G>T	NP_001159585.1:p.Val1250Leu
NM_001166114.1:c.3862G>T	NP_001159586.1:p.Val1288Leu
NM_006702.4:c.3748G>T	NP_006693.3:p.Val1250Leu
NM_001166111.2:c.3892G>T	NP_001159583.1:p.Val1298Leu
NM_001166114.2:c.3862G>T MANE Select	NP_001159586.1:p.Val1288Leu
NM_006702.5:c.3748G>T	NP_006693.3:p.Val1250Leu
NM_001166112.2:c.3667G>T	NP_001159584.1:p.Val1223Leu