Canonical Allele Identifier: CA619512996

Gene: POLG

Linked Data

• dbSNP Id: rs1442854671
• gnomAD v2: 15-89866749-G-A
• MyVariant Identifiers: chr15:g.89866749G>A (hg19) ; chr15:g.89323518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323518G>A , CM000677.2:g.89323518G>A	GRCh38
NC_000015.9:g.89866749G>A , CM000677.1:g.89866749G>A	GRCh37
NC_000015.8:g.87667753G>A	NCBI36
NG_008218.1:g.16278C>T
NG_008218.2:g.16278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-7C>T	ENSP00000516154.1:n.2158-7C>T
ENST00000268124.11:c.2158-7C>T MANE Select	ENSP00000268124.5:n.2158-7C>T
ENST00000530292.3:c.1759-7C>T	ENSP00000432885.2:n.1759-7C>T
ENST00000635986.2:c.2158-7C>T	ENSP00000490653.2:n.2158-7C>T
ENST00000636774.1:c.*725-7C>T	ENSP00000489799.1:n.*725-7C>T
ENST00000637238.1:c.855-7C>T	ENSP00000490756.1:n.855-7C>T
ENST00000637264.1:c.1230-7C>T
ENST00000666746.1:c.1735-7C>T
ENST00000670281.1:c.478-7C>T	ENSP00000499709.1:n.478-7C>T
ENST00000672071.1:n.2356-7C>T
ENST00000672923.2:n.2261-7C>T
ENST00000268124.9:c.2158-7C>T	ENSP00000268124.5:n.2158-7C>T
ENST00000442287.6:c.2158-7C>T	ENSP00000399851.2:n.2158-7C>T
ENST00000526314.2:c.539+297C>T
ENST00000526398.1:c.307-7C>T
ENST00000526573.1:n.540C>T
ENST00000532584.5:n.360-7C>T
ENST00000631044.2:c.*1575C>T	ENSP00000486730.1:n.*1575C>T
NM_001126131.1:c.2158-7C>T	NP_001119603.1:n.2158-7C>T
NM_002693.2:c.2158-7C>T	NP_002684.1:n.2158-7C>T
NM_001126131.2:c.2158-7C>T	NP_001119603.1:n.2158-7C>T
NM_002693.3:c.2158-7C>T MANE Select	NP_002684.1:n.2158-7C>T