Canonical Allele Identifier: CA393760980

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870243A>C (hg19) ; chr15:g.89327012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327012A>C , CM000677.2:g.89327012A>C	GRCh38
NC_000015.9:g.89870243A>C , CM000677.1:g.89870243A>C	GRCh37
NC_000015.8:g.87671247A>C	NCBI36
NG_008218.1:g.12784T>G
NG_008218.2:g.12784T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1485T>G	ENSP00000516154.1:p.Phe495Leu
ENST00000268124.11:c.1485T>G MANE Select	ENSP00000268124.5:p.Phe495Leu
ENST00000530292.3:c.1086T>G	ENSP00000432885.2:p.Phe362Leu
ENST00000635986.2:c.1485T>G	ENSP00000490653.2:p.Phe495Leu
ENST00000636774.1:c.*52T>G	ENSP00000489799.1:n.*52T>G
ENST00000637238.1:c.222T>G	ENSP00000490756.1:p.Phe74Leu
ENST00000637264.1:c.557T>G
ENST00000666746.1:c.1062T>G
ENST00000672071.1:n.1683T>G
ENST00000672923.2:n.1588T>G
ENST00000268124.9:c.1485T>G	ENSP00000268124.5:p.Phe495Leu
ENST00000442287.6:c.1485T>G	ENSP00000399851.2:p.Phe495Leu
ENST00000631044.2:c.*868T>G	ENSP00000486730.1:n.*868T>G
NM_001126131.1:c.1485T>G	NP_001119603.1:p.Phe495Leu
NM_002693.2:c.1485T>G	NP_002684.1:p.Phe495Leu
NM_001126131.2:c.1485T>G	NP_001119603.1:p.Phe495Leu
NM_002693.3:c.1485T>G MANE Select	NP_002684.1:p.Phe495Leu