Canonical Allele Identifier: CA393759403

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868861C>T (hg19) ; chr15:g.89325630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325630C>T , CM000677.2:g.89325630C>T	GRCh38
NC_000015.9:g.89868861C>T , CM000677.1:g.89868861C>T	GRCh37
NC_000015.8:g.87669865C>T	NCBI36
NG_008218.1:g.14166G>A
NG_008218.2:g.14166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1769G>A	ENSP00000516154.1:p.Ser590Asn
ENST00000268124.11:c.1769G>A MANE Select	ENSP00000268124.5:p.Ser590Asn
ENST00000530292.3:c.1370G>A	ENSP00000432885.2:p.Ser457Asn
ENST00000635986.2:c.1769G>A	ENSP00000490653.2:p.Ser590Asn
ENST00000636774.1:c.*336G>A	ENSP00000489799.1:n.*336G>A
ENST00000637238.1:c.506G>A	ENSP00000490756.1:p.Ser169Asn
ENST00000637264.1:c.841G>A
ENST00000666746.1:c.1346G>A
ENST00000670281.1:c.89G>A	ENSP00000499709.1:p.Ser30Asn
ENST00000672071.1:n.1967G>A
ENST00000672923.2:n.1872G>A
ENST00000268124.9:c.1769G>A	ENSP00000268124.5:p.Ser590Asn
ENST00000442287.6:c.1769G>A	ENSP00000399851.2:p.Ser590Asn
ENST00000526314.2:c.151G>A
ENST00000631044.2:c.*1152G>A	ENSP00000486730.1:n.*1152G>A
NM_001126131.1:c.1769G>A	NP_001119603.1:p.Ser590Asn
NM_002693.2:c.1769G>A	NP_002684.1:p.Ser590Asn
NM_001126131.2:c.1769G>A	NP_001119603.1:p.Ser590Asn
NM_002693.3:c.1769G>A MANE Select	NP_002684.1:p.Ser590Asn