Canonical Allele Identifier: CA393749918

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861903C>A (hg19) ; chr15:g.89318672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318672C>A , CM000677.2:g.89318672C>A	GRCh38
NC_000015.9:g.89861903C>A , CM000677.1:g.89861903C>A	GRCh37
NC_000015.8:g.87662907C>A	NCBI36
NG_008218.1:g.21124G>T
NG_011736.1:g.79710C>A , LRG_500:g.79710C>A
NG_008218.2:g.21124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3351G>T	ENSP00000516154.1:p.Lys1117Asn
ENST00000268124.11:c.3351G>T MANE Select	ENSP00000268124.5:p.Lys1117Asn
ENST00000530292.3:c.2952G>T	ENSP00000432885.2:p.Lys984Asn
ENST00000635986.2:c.*421G>T	ENSP00000490653.2:n.*421G>T
ENST00000636774.1:c.*1918G>T	ENSP00000489799.1:n.*1918G>T
ENST00000637238.1:c.2160G>T	ENSP00000490756.1:n.2160G>T
ENST00000637264.1:c.2423G>T
ENST00000666746.1:c.2928G>T
ENST00000672071.1:n.3549G>T
ENST00000672695.1:n.528G>T
ENST00000672923.2:n.3351G>T
ENST00000268124.9:c.3351G>T	ENSP00000268124.5:p.Lys1117Asn
ENST00000442287.6:c.3351G>T	ENSP00000399851.2:p.Lys1117Asn
ENST00000530292.2:c.435G>T	ENSP00000432885.1:p.Lys145Asn
ENST00000631044.2:c.*2775G>T	ENSP00000486730.1:n.*2775G>T
NM_001126131.1:c.3351G>T	NP_001119603.1:p.Lys1117Asn
NM_002693.2:c.3351G>T	NP_002684.1:p.Lys1117Asn
NM_001126131.2:c.3351G>T	NP_001119603.1:p.Lys1117Asn
NM_002693.3:c.3351G>T MANE Select	NP_002684.1:p.Lys1117Asn