Canonical Allele Identifier: CA393759362

Gene: POLG

Linked Data

• dbSNP Id: rs1207968553
• gnomAD v2: 15-89868842-C-T
• gnomAD v4: 15-89325611-C-T
• MyVariant Identifiers: chr15:g.89868842C>T (hg19) ; chr15:g.89325611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325611C>T , CM000677.2:g.89325611C>T	GRCh38
NC_000015.9:g.89868842C>T , CM000677.1:g.89868842C>T	GRCh37
NC_000015.8:g.87669846C>T	NCBI36
NG_008218.1:g.14185G>A
NG_008218.2:g.14185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1788G>A	ENSP00000516154.1:p.Met596Ile
ENST00000268124.11:c.1788G>A MANE Select	ENSP00000268124.5:p.Met596Ile
ENST00000530292.3:c.1389G>A	ENSP00000432885.2:p.Met463Ile
ENST00000635986.2:c.1788G>A	ENSP00000490653.2:p.Met596Ile
ENST00000636774.1:c.*355G>A	ENSP00000489799.1:n.*355G>A
ENST00000637238.1:c.525G>A	ENSP00000490756.1:p.Met175Ile
ENST00000637264.1:c.860G>A
ENST00000666746.1:c.1365G>A
ENST00000670281.1:c.108G>A	ENSP00000499709.1:p.Met36Ile
ENST00000672071.1:n.1986G>A
ENST00000672923.2:n.1891G>A
ENST00000268124.9:c.1788G>A	ENSP00000268124.5:p.Met596Ile
ENST00000442287.6:c.1788G>A	ENSP00000399851.2:p.Met596Ile
ENST00000526314.2:c.170G>A
ENST00000631044.2:c.*1171G>A	ENSP00000486730.1:n.*1171G>A
NM_001126131.1:c.1788G>A	NP_001119603.1:p.Met596Ile
NM_002693.2:c.1788G>A	NP_002684.1:p.Met596Ile
NM_001126131.2:c.1788G>A	NP_001119603.1:p.Met596Ile
NM_002693.3:c.1788G>A MANE Select	NP_002684.1:p.Met596Ile