Canonical Allele Identifier: CA393759197

Gene: POLG

Linked Data

• gnomAD v4: 15-89325533-G-T
• MyVariant Identifiers: chr15:g.89868764G>T (hg19) ; chr15:g.89325533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325533G>T , CM000677.2:g.89325533G>T	GRCh38
NC_000015.9:g.89868764G>T , CM000677.1:g.89868764G>T	GRCh37
NC_000015.8:g.87669768G>T	NCBI36
NG_008218.1:g.14263C>A
NG_008218.2:g.14263C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1866C>A	ENSP00000516154.1:p.Tyr622Ter
ENST00000268124.11:c.1866C>A MANE Select	ENSP00000268124.5:p.Tyr622Ter
ENST00000530292.3:c.1467C>A	ENSP00000432885.2:p.Tyr489Ter
ENST00000635986.2:c.1866C>A	ENSP00000490653.2:p.Tyr622Ter
ENST00000636774.1:c.*433C>A	ENSP00000489799.1:n.*433C>A
ENST00000637238.1:c.603C>A	ENSP00000490756.1:p.Tyr201Ter
ENST00000637264.1:c.938C>A
ENST00000666746.1:c.1443C>A
ENST00000670281.1:c.186C>A	ENSP00000499709.1:p.Tyr62Ter
ENST00000672071.1:n.2064C>A
ENST00000672923.2:n.1969C>A
ENST00000268124.9:c.1866C>A	ENSP00000268124.5:p.Tyr622Ter
ENST00000442287.6:c.1866C>A	ENSP00000399851.2:p.Tyr622Ter
ENST00000526314.2:c.248C>A
ENST00000526398.1:c.55C>A
ENST00000532584.5:n.68C>A
ENST00000631044.2:c.*1249C>A	ENSP00000486730.1:n.*1249C>A
NM_001126131.1:c.1866C>A	NP_001119603.1:p.Tyr622Ter
NM_002693.2:c.1866C>A	NP_002684.1:p.Tyr622Ter
NM_001126131.2:c.1866C>A	NP_001119603.1:p.Tyr622Ter
NM_002693.3:c.1866C>A MANE Select	NP_002684.1:p.Tyr622Ter