Canonical Allele Identifier: CA393758902

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868684T>G (hg19) ; chr15:g.89325453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325453T>G , CM000677.2:g.89325453T>G	GRCh38
NC_000015.9:g.89868684T>G , CM000677.1:g.89868684T>G	GRCh37
NC_000015.8:g.87669688T>G	NCBI36
NG_008218.1:g.14343A>C
NG_008218.2:g.14343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1946A>C	ENSP00000516154.1:p.Tyr649Ser
ENST00000268124.11:c.1946A>C MANE Select	ENSP00000268124.5:p.Tyr649Ser
ENST00000530292.3:c.1547A>C	ENSP00000432885.2:p.Tyr516Ser
ENST00000635986.2:c.1946A>C	ENSP00000490653.2:p.Tyr649Ser
ENST00000636774.1:c.*513A>C	ENSP00000489799.1:n.*513A>C
ENST00000637238.1:c.646+37A>C	ENSP00000490756.1:n.646+37A>C
ENST00000637264.1:c.1018A>C
ENST00000666746.1:c.1523A>C
ENST00000670281.1:c.266A>C	ENSP00000499709.1:p.Tyr89Ser
ENST00000672071.1:n.2144A>C
ENST00000672923.2:n.2049A>C
ENST00000268124.9:c.1946A>C	ENSP00000268124.5:p.Tyr649Ser
ENST00000442287.6:c.1946A>C	ENSP00000399851.2:p.Tyr649Ser
ENST00000526314.2:c.328A>C
ENST00000526398.1:c.135A>C
ENST00000526573.1:n.32A>C
ENST00000532584.5:n.148A>C
ENST00000631044.2:c.*1329A>C	ENSP00000486730.1:n.*1329A>C
NM_001126131.1:c.1946A>C	NP_001119603.1:p.Tyr649Ser
NM_002693.2:c.1946A>C	NP_002684.1:p.Tyr649Ser
NM_001126131.2:c.1946A>C	NP_001119603.1:p.Tyr649Ser
NM_002693.3:c.1946A>C MANE Select	NP_002684.1:p.Tyr649Ser