Canonical Allele Identifier: CA393749830

Gene: POLG

Linked Data

• dbSNP Id: rs1176145260
• gnomAD v2: 15-89861863-T-C
• gnomAD v4: 15-89318632-T-C
• MyVariant Identifiers: chr15:g.89861863T>C (hg19) ; chr15:g.89318632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318632T>C , CM000677.2:g.89318632T>C	GRCh38
NC_000015.9:g.89861863T>C , CM000677.1:g.89861863T>C	GRCh37
NC_000015.8:g.87662867T>C	NCBI36
NG_008218.1:g.21164A>G
NG_011736.1:g.79670T>C , LRG_500:g.79670T>C
NG_008218.2:g.21164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3391A>G	ENSP00000516154.1:p.Ile1131Val
ENST00000268124.11:c.3391A>G MANE Select	ENSP00000268124.5:p.Ile1131Val
ENST00000530292.3:c.2992A>G	ENSP00000432885.2:p.Ile998Val
ENST00000635986.2:c.*461A>G	ENSP00000490653.2:n.*461A>G
ENST00000636774.1:c.*1958A>G	ENSP00000489799.1:n.*1958A>G
ENST00000637238.1:c.2200A>G	ENSP00000490756.1:n.2200A>G
ENST00000637264.1:c.2463A>G
ENST00000666746.1:c.2968A>G
ENST00000672071.1:n.3589A>G
ENST00000672695.1:n.568A>G
ENST00000672923.2:n.3391A>G
ENST00000268124.9:c.3391A>G	ENSP00000268124.5:p.Ile1131Val
ENST00000442287.6:c.3391A>G	ENSP00000399851.2:p.Ile1131Val
ENST00000530292.2:c.475A>G	ENSP00000432885.1:p.Ile159Val
ENST00000631044.2:c.*2815A>G	ENSP00000486730.1:n.*2815A>G
NM_001126131.1:c.3391A>G	NP_001119603.1:p.Ile1131Val
NM_002693.2:c.3391A>G	NP_002684.1:p.Ile1131Val
NM_001126131.2:c.3391A>G	NP_001119603.1:p.Ile1131Val
NM_002693.3:c.3391A>G MANE Select	NP_002684.1:p.Ile1131Val