Canonical Allele Identifier: CA393758934

Gene: POLG

Linked Data

• gnomAD v4: 15-89325459-C-G
• MyVariant Identifiers: chr15:g.89868690C>G (hg19) ; chr15:g.89325459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325459C>G , CM000677.2:g.89325459C>G	GRCh38
NC_000015.9:g.89868690C>G , CM000677.1:g.89868690C>G	GRCh37
NC_000015.8:g.87669694C>G	NCBI36
NG_008218.1:g.14337G>C
NG_008218.2:g.14337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1940G>C	ENSP00000516154.1:p.Cys647Ser
ENST00000268124.11:c.1940G>C MANE Select	ENSP00000268124.5:p.Cys647Ser
ENST00000530292.3:c.1541G>C	ENSP00000432885.2:p.Cys514Ser
ENST00000635986.2:c.1940G>C	ENSP00000490653.2:p.Cys647Ser
ENST00000636774.1:c.*507G>C	ENSP00000489799.1:n.*507G>C
ENST00000637238.1:c.646+31G>C	ENSP00000490756.1:n.646+31G>C
ENST00000637264.1:c.1012G>C
ENST00000666746.1:c.1517G>C
ENST00000670281.1:c.260G>C	ENSP00000499709.1:p.Cys87Ser
ENST00000672071.1:n.2138G>C
ENST00000672923.2:n.2043G>C
ENST00000268124.9:c.1940G>C	ENSP00000268124.5:p.Cys647Ser
ENST00000442287.6:c.1940G>C	ENSP00000399851.2:p.Cys647Ser
ENST00000526314.2:c.322G>C
ENST00000526398.1:c.129G>C
ENST00000526573.1:n.26G>C
ENST00000532584.5:n.142G>C
ENST00000631044.2:c.*1323G>C	ENSP00000486730.1:n.*1323G>C
NM_001126131.1:c.1940G>C	NP_001119603.1:p.Cys647Ser
NM_002693.2:c.1940G>C	NP_002684.1:p.Cys647Ser
NM_001126131.2:c.1940G>C	NP_001119603.1:p.Cys647Ser
NM_002693.3:c.1940G>C MANE Select	NP_002684.1:p.Cys647Ser