Canonical Allele Identifier: CA292834

Gene: POLG

Linked Data

• ClinVar Variation Id: 138750
• ClinVar RCV Id: RCV000127526 ; RCV000403402 ; RCV000734626 ; RCV000709782 ; RCV001457683 ; RCV003985730
• dbSNP Id: rs201749977
• ExAC: 15:89864489 A / G
• gnomAD v2: 15-89864489-A-G
• gnomAD v3: 15-89321258-A-G
• gnomAD v4: 15-89321258-A-G
• MyVariant Identifiers: chr15:g.89864489A>G (hg19) ; chr15:g.89321258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321258A>G , CM000677.2:g.89321258A>G	GRCh38
NC_000015.9:g.89864489A>G , CM000677.1:g.89864489A>G	GRCh37
NC_000015.8:g.87665493A>G	NCBI36
NG_008218.1:g.18538T>C
NG_008218.2:g.18538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2601T>C	ENSP00000516154.1:p.Pro867=
ENST00000268124.11:c.2601T>C MANE Select	ENSP00000268124.5:p.Pro867=
ENST00000530292.3:c.2202T>C	ENSP00000432885.2:p.Pro734=
ENST00000635986.2:c.2601T>C	ENSP00000490653.2:p.Pro867=
ENST00000636774.1:c.*1168T>C	ENSP00000489799.1:n.*1168T>C
ENST00000637238.1:c.1298T>C	ENSP00000490756.1:n.1298T>C
ENST00000637264.1:c.1673T>C
ENST00000666746.1:c.2178T>C
ENST00000670281.1:c.800+704T>C	ENSP00000499709.1:n.800+704T>C
ENST00000672071.1:n.2799T>C
ENST00000672923.2:n.2543T>C
ENST00000268124.9:c.2601T>C	ENSP00000268124.5:p.Pro867=
ENST00000442287.6:c.2601T>C	ENSP00000399851.2:p.Pro867=
ENST00000528881.2:c.198T>C
ENST00000530715.5:c.186-389T>C	ENSP00000431395.1:n.186-389T>C
ENST00000631044.2:c.*2025T>C	ENSP00000486730.1:n.*2025T>C
NM_001126131.1:c.2601T>C	NP_001119603.1:p.Pro867=
NM_002693.2:c.2601T>C	NP_002684.1:p.Pro867=
NM_001126131.2:c.2601T>C	NP_001119603.1:p.Pro867=
NM_002693.3:c.2601T>C MANE Select	NP_002684.1:p.Pro867=