Canonical Allele Identifier: CA229191

Gene: PAPOLA

Linked Data

• ClinVar Variation Id: 100882
• ClinVar RCV Id: RCV000087244
• dbSNP Id: rs483352759
• MyVariant Identifiers: chr14:g.97014198A>G (hg19) ; chr14:g.96547861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.96547861A>G , CM000676.2:g.96547861A>G	GRCh38
NC_000014.8:g.97014198A>G , CM000676.1:g.97014198A>G	GRCh37
NC_000014.7:g.96083951A>G	NCBI36
NG_030439.1:g.50486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216277.13:c.1464A>G MANE Select	ENSP00000216277.8:p.Val488=
ENST00000216277.12:c.1464A>G	ENSP00000216277.8:p.Val488=
ENST00000392990.6:c.1464A>G	ENSP00000376716.2:p.Val488=
ENST00000553689.5:c.*964A>G	ENSP00000451600.1:n.*964A>G
ENST00000554135.1:n.174A>G
ENST00000554666.5:n.515A>G
ENST00000555626.5:c.714A>G	ENSP00000450534.1:p.Val238=
ENST00000555701.5:n.822+3603A>G
ENST00000556283.1:n.340A>G
ENST00000556787.5:n.685A>G
NM_001293627.1:c.1464A>G	NP_001280556.1:p.Val488=
NM_001293628.1:c.714A>G	NP_001280557.1:p.Val238=
NM_001293632.1:c.714A>G	NP_001280561.1:p.Val238=
NM_032632.4:c.1464A>G	NP_116021.2:p.Val488=
XM_005267281.1:c.1464A>G	XP_005267338.1:p.Val488=
XM_005267282.1:c.1464A>G	XP_005267339.1:p.Val488=
NM_001363662.1:c.1464A>G	NP_001350591.1:p.Val488=
NM_001363664.1:c.1464A>G	NP_001350593.1:p.Val488=
NM_001363665.1:c.1464A>G	NP_001350594.1:p.Val488=
NM_001363666.1:c.1464A>G	NP_001350595.1:p.Val488=
NM_001293632.2:c.714A>G	NP_001280561.1:p.Val238=
NM_001363662.2:c.1464A>G	NP_001350591.1:p.Val488=
NM_001363664.2:c.1464A>G	NP_001350593.1:p.Val488=
NM_001363665.2:c.1464A>G	NP_001350594.1:p.Val488=
NM_001363666.2:c.1464A>G	NP_001350595.1:p.Val488=
NM_001293628.2:c.714A>G	NP_001280557.1:p.Val238=
NM_001293632.3:c.714A>G	NP_001280561.1:p.Val238=
NM_001363662.3:c.1464A>G	NP_001350591.1:p.Val488=
NM_001363664.3:c.1464A>G	NP_001350593.1:p.Val488=
NM_001363665.3:c.1464A>G	NP_001350594.1:p.Val488=
NM_001363666.3:c.1464A>G	NP_001350595.1:p.Val488=
NM_032632.5:c.1464A>G MANE Select	NP_116021.2:p.Val488=