Canonical Allele Identifier: CA316740

Gene: POLG

Linked Data

• ClinVar Variation Id: 206548
• ClinVar RCV Id: RCV000188603 ; RCV000633548 ; RCV001808470 ; RCV002247605 ; RCV002317146
• dbSNP Id: rs181860632
• ExAC: 15:89862296 G / A
• gnomAD v2: 15-89862296-G-A
• gnomAD v3: 15-89319065-G-A
• gnomAD v4: 15-89319065-G-A
• MyVariant Identifiers: chr15:g.89862296G>A (hg19) ; chr15:g.89319065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319065G>A , CM000677.2:g.89319065G>A	GRCh38
NC_000015.9:g.89862296G>A , CM000677.1:g.89862296G>A	GRCh37
NC_000015.8:g.87663300G>A	NCBI36
NG_008218.1:g.20731C>T
NG_011736.1:g.80103G>A , LRG_500:g.80103G>A
NG_008218.2:g.20731C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3139C>T	ENSP00000516154.1:p.Arg1047Trp
ENST00000268124.11:c.3139C>T MANE Select	ENSP00000268124.5:p.Arg1047Trp
ENST00000530292.3:c.2740C>T	ENSP00000432885.2:p.Arg914Trp
ENST00000635986.2:c.*209C>T	ENSP00000490653.2:n.*209C>T
ENST00000636530.1:n.99C>T
ENST00000636774.1:c.*1706C>T	ENSP00000489799.1:n.*1706C>T
ENST00000637238.1:c.1948C>T	ENSP00000490756.1:n.1948C>T
ENST00000637264.1:c.2211C>T
ENST00000666746.1:c.2716C>T
ENST00000672071.1:n.3337C>T
ENST00000672695.1:n.316C>T
ENST00000672923.2:n.3139C>T
ENST00000268124.9:c.3139C>T	ENSP00000268124.5:p.Arg1047Trp
ENST00000442287.6:c.3139C>T	ENSP00000399851.2:p.Arg1047Trp
ENST00000530292.2:c.223C>T	ENSP00000432885.1:p.Arg75Trp
ENST00000631044.2:c.*2563C>T	ENSP00000486730.1:n.*2563C>T
NM_001126131.1:c.3139C>T	NP_001119603.1:p.Arg1047Trp
NM_002693.2:c.3139C>T	NP_002684.1:p.Arg1047Trp
NM_001126131.2:c.3139C>T	NP_001119603.1:p.Arg1047Trp
NM_002693.3:c.3139C>T MANE Select	NP_002684.1:p.Arg1047Trp