Canonical Allele Identifier: CA256899

Gene: POLG

Linked Data

• ClinVar Variation Id: 13512
• ClinVar RCV Id: RCV000014466 ; RCV000560575 ; RCV003333951 ; RCV001449754 ; RCV003330388
• dbSNP Id: rs121918053
• ExAC: 15:89865008 G / A
• gnomAD v2: 15-89865008-G-A
• gnomAD v3: 15-89321777-G-A
• gnomAD v4: 15-89321777-G-A
• MyVariant Identifiers: chr15:g.89865008G>A (hg19) ; chr15:g.89321777G>A (hg38)
• PubMed: PMID:16634032

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321777G>A , CM000677.2:g.89321777G>A	GRCh38
NC_000015.9:g.89865008G>A , CM000677.1:g.89865008G>A	GRCh37
NC_000015.8:g.87666012G>A	NCBI36
NG_008218.1:g.18019C>T
NG_008218.2:g.18019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2557C>T	ENSP00000516154.1:p.Arg853Trp
ENST00000268124.11:c.2557C>T MANE Select	ENSP00000268124.5:p.Arg853Trp
ENST00000530292.3:c.2158C>T	ENSP00000432885.2:p.Arg720Trp
ENST00000635986.2:c.2557C>T	ENSP00000490653.2:p.Arg853Trp
ENST00000636774.1:c.*1124C>T	ENSP00000489799.1:n.*1124C>T
ENST00000637238.1:c.1254C>T	ENSP00000490756.1:n.1254C>T
ENST00000637264.1:c.1629C>T
ENST00000666746.1:c.2134C>T
ENST00000670281.1:c.800+185C>T	ENSP00000499709.1:n.800+185C>T
ENST00000672071.1:n.2755C>T
ENST00000672923.2:n.2499C>T
ENST00000268124.9:c.2557C>T	ENSP00000268124.5:p.Arg853Trp
ENST00000442287.6:c.2557C>T	ENSP00000399851.2:p.Arg853Trp
ENST00000528881.2:c.196-517C>T
ENST00000530715.5:c.186-908C>T	ENSP00000431395.1:n.186-908C>T
ENST00000532584.5:n.706C>T
ENST00000631044.2:c.*1981C>T	ENSP00000486730.1:n.*1981C>T
NM_001126131.1:c.2557C>T	NP_001119603.1:p.Arg853Trp
NM_002693.2:c.2557C>T	NP_002684.1:p.Arg853Trp
NM_001126131.2:c.2557C>T	NP_001119603.1:p.Arg853Trp
NM_002693.3:c.2557C>T MANE Select	NP_002684.1:p.Arg853Trp