Canonical Allele Identifier: CA492070540

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860650A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317419A>C , CM000677.2:g.89317419A>C	GRCh38
NC_000015.9:g.89860650A>C , CM000677.1:g.89860650A>C	GRCh37
NC_000015.8:g.87661654A>C	NCBI36
NG_008218.1:g.22377T>G
NG_011736.1:g.78457A>C , LRG_500:g.78457A>C
NG_008218.2:g.22377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3600T>G	ENSP00000516154.1:p.Pro1200=
ENST00000268124.11:c.3600T>G MANE Select	ENSP00000268124.5:p.Pro1200=
ENST00000530292.3:c.3300T>G	ENSP00000432885.2:n.3300T>G
ENST00000635986.2:c.*670T>G	ENSP00000490653.2:n.*670T>G
ENST00000636774.1:c.*2204T>G	ENSP00000489799.1:n.*2204T>G
ENST00000637238.1:c.2508T>G	ENSP00000490756.1:n.2508T>G
ENST00000637264.1:c.2612T>G
ENST00000666746.1:c.3177T>G
ENST00000672071.1:n.4802T>G
ENST00000672695.1:n.1379T>G
ENST00000672923.2:n.3600T>G
ENST00000268124.9:c.3600T>G	ENSP00000268124.5:p.Pro1200=
ENST00000442287.6:c.3600T>G	ENSP00000399851.2:p.Pro1200=
ENST00000526671.1:n.410T>G
ENST00000530292.2:c.783T>G	ENSP00000432885.1:n.783T>G
ENST00000631044.2:c.*3024T>G	ENSP00000486730.1:n.*3024T>G
NM_001126131.1:c.3600T>G	NP_001119603.1:p.Pro1200=
NM_002693.2:c.3600T>G	NP_002684.1:p.Pro1200=
NM_001126131.2:c.3600T>G	NP_001119603.1:p.Pro1200=
NM_002693.3:c.3600T>G MANE Select	NP_002684.1:p.Pro1200=