Canonical Allele Identifier: CA393760995

Gene: POLG

Linked Data

• gnomAD v4: 15-89327014-A-G
• MyVariant Identifiers: chr15:g.89870245A>G (hg19) ; chr15:g.89327014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327014A>G , CM000677.2:g.89327014A>G	GRCh38
NC_000015.9:g.89870245A>G , CM000677.1:g.89870245A>G	GRCh37
NC_000015.8:g.87671249A>G	NCBI36
NG_008218.1:g.12782T>C
NG_008218.2:g.12782T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1483T>C	ENSP00000516154.1:p.Phe495Leu
ENST00000268124.11:c.1483T>C MANE Select	ENSP00000268124.5:p.Phe495Leu
ENST00000530292.3:c.1084T>C	ENSP00000432885.2:p.Phe362Leu
ENST00000635986.2:c.1483T>C	ENSP00000490653.2:p.Phe495Leu
ENST00000636774.1:c.*50T>C	ENSP00000489799.1:n.*50T>C
ENST00000637238.1:c.220T>C	ENSP00000490756.1:p.Phe74Leu
ENST00000637264.1:c.555T>C
ENST00000666746.1:c.1060T>C
ENST00000672071.1:n.1681T>C
ENST00000672923.2:n.1586T>C
ENST00000268124.9:c.1483T>C	ENSP00000268124.5:p.Phe495Leu
ENST00000442287.6:c.1483T>C	ENSP00000399851.2:p.Phe495Leu
ENST00000532363.2:n.444T>C
ENST00000631044.2:c.*866T>C	ENSP00000486730.1:n.*866T>C
NM_001126131.1:c.1483T>C	NP_001119603.1:p.Phe495Leu
NM_002693.2:c.1483T>C	NP_002684.1:p.Phe495Leu
NM_001126131.2:c.1483T>C	NP_001119603.1:p.Phe495Leu
NM_002693.3:c.1483T>C MANE Select	NP_002684.1:p.Phe495Leu