Canonical Allele Identifier: CA316852

Gene: POLG

Linked Data

• ClinVar Variation Id: 206605
• ClinVar RCV Id: RCV000188670 ; RCV000551532 ; RCV001116517 ; RCV000732615 ; RCV003985762
• dbSNP Id: rs568913937
• ExAC: 15:89868732 T / G
• gnomAD v2: 15-89868732-T-G
• gnomAD v3: 15-89325501-T-G
• gnomAD v4: 15-89325501-T-G
• MyVariant Identifiers: chr15:g.89868732T>G (hg19) ; chr15:g.89325501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325501T>G , CM000677.2:g.89325501T>G	GRCh38
NC_000015.9:g.89868732T>G , CM000677.1:g.89868732T>G	GRCh37
NC_000015.8:g.87669736T>G	NCBI36
NG_008218.1:g.14295A>C
NG_008218.2:g.14295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1898A>C	ENSP00000516154.1:p.Lys633Thr
ENST00000268124.11:c.1898A>C MANE Select	ENSP00000268124.5:p.Lys633Thr
ENST00000530292.3:c.1499A>C	ENSP00000432885.2:p.Lys500Thr
ENST00000635986.2:c.1898A>C	ENSP00000490653.2:p.Lys633Thr
ENST00000636774.1:c.*465A>C	ENSP00000489799.1:n.*465A>C
ENST00000637238.1:c.635A>C	ENSP00000490756.1:p.Lys212Thr
ENST00000637264.1:c.970A>C
ENST00000666746.1:c.1475A>C
ENST00000670281.1:c.218A>C	ENSP00000499709.1:p.Lys73Thr
ENST00000672071.1:n.2096A>C
ENST00000672923.2:n.2001A>C
ENST00000268124.9:c.1898A>C	ENSP00000268124.5:p.Lys633Thr
ENST00000442287.6:c.1898A>C	ENSP00000399851.2:p.Lys633Thr
ENST00000526314.2:c.280A>C
ENST00000526398.1:c.87A>C
ENST00000532584.5:n.100A>C
ENST00000631044.2:c.*1281A>C	ENSP00000486730.1:n.*1281A>C
NM_001126131.1:c.1898A>C	NP_001119603.1:p.Lys633Thr
NM_002693.2:c.1898A>C	NP_002684.1:p.Lys633Thr
NM_001126131.2:c.1898A>C	NP_001119603.1:p.Lys633Thr
NM_002693.3:c.1898A>C MANE Select	NP_002684.1:p.Lys633Thr