Canonical Allele Identifier: CA393756699

Gene: POLG

Linked Data

• gnomAD v4: 15-89323439-T-C
• MyVariant Identifiers: chr15:g.89866670T>C (hg19) ; chr15:g.89323439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323439T>C , CM000677.2:g.89323439T>C	GRCh38
NC_000015.9:g.89866670T>C , CM000677.1:g.89866670T>C	GRCh37
NC_000015.8:g.87667674T>C	NCBI36
NG_008218.1:g.16357A>G
NG_008218.2:g.16357A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2230A>G	ENSP00000516154.1:p.Ile744Val
ENST00000268124.11:c.2230A>G MANE Select	ENSP00000268124.5:p.Ile744Val
ENST00000530292.3:c.1831A>G	ENSP00000432885.2:p.Ile611Val
ENST00000635986.2:c.2230A>G	ENSP00000490653.2:p.Ile744Val
ENST00000636774.1:c.*797A>G	ENSP00000489799.1:n.*797A>G
ENST00000637238.1:c.927A>G	ENSP00000490756.1:n.927A>G
ENST00000637264.1:c.1302A>G
ENST00000666746.1:c.1807A>G
ENST00000670281.1:c.550A>G	ENSP00000499709.1:p.Ile184Val
ENST00000672071.1:n.2428A>G
ENST00000672923.2:n.2333A>G
ENST00000268124.9:c.2230A>G	ENSP00000268124.5:p.Ile744Val
ENST00000442287.6:c.2230A>G	ENSP00000399851.2:p.Ile744Val
ENST00000526314.2:c.539+376A>G
ENST00000526398.1:c.379A>G
ENST00000532584.5:n.432A>G
ENST00000631044.2:c.*1654A>G	ENSP00000486730.1:n.*1654A>G
NM_001126131.1:c.2230A>G	NP_001119603.1:p.Ile744Val
NM_002693.2:c.2230A>G	NP_002684.1:p.Ile744Val
NM_001126131.2:c.2230A>G	NP_001119603.1:p.Ile744Val
NM_002693.3:c.2230A>G MANE Select	NP_002684.1:p.Ile744Val