Canonical Allele Identifier: CA393759473

Gene: POLG

Linked Data

• dbSNP Id: rs775769107
• gnomAD v2: 15-89868898-G-C
• gnomAD v4: 15-89325667-G-C
• MyVariant Identifiers: chr15:g.89868898G>C (hg19) ; chr15:g.89325667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325667G>C , CM000677.2:g.89325667G>C	GRCh38
NC_000015.9:g.89868898G>C , CM000677.1:g.89868898G>C	GRCh37
NC_000015.8:g.87669902G>C	NCBI36
NG_008218.1:g.14129C>G
NG_008218.2:g.14129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1732C>G	ENSP00000516154.1:p.Pro578Ala
ENST00000268124.11:c.1732C>G MANE Select	ENSP00000268124.5:p.Pro578Ala
ENST00000530292.3:c.1333C>G	ENSP00000432885.2:p.Pro445Ala
ENST00000635986.2:c.1732C>G	ENSP00000490653.2:p.Pro578Ala
ENST00000636774.1:c.*299C>G	ENSP00000489799.1:n.*299C>G
ENST00000637238.1:c.469C>G	ENSP00000490756.1:p.Pro157Ala
ENST00000637264.1:c.804C>G
ENST00000666746.1:c.1309C>G
ENST00000670281.1:c.52C>G	ENSP00000499709.1:p.Pro18Ala
ENST00000672071.1:n.1930C>G
ENST00000672923.2:n.1835C>G
ENST00000268124.9:c.1732C>G	ENSP00000268124.5:p.Pro578Ala
ENST00000442287.6:c.1732C>G	ENSP00000399851.2:p.Pro578Ala
ENST00000526314.2:c.114C>G
ENST00000631044.2:c.*1115C>G	ENSP00000486730.1:n.*1115C>G
NM_001126131.1:c.1732C>G	NP_001119603.1:p.Pro578Ala
NM_002693.2:c.1732C>G	NP_002684.1:p.Pro578Ala
NM_001126131.2:c.1732C>G	NP_001119603.1:p.Pro578Ala
NM_002693.3:c.1732C>G MANE Select	NP_002684.1:p.Pro578Ala