Canonical Allele Identifier: CA393756736

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866687G>A (hg19) ; chr15:g.89323456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323456G>A , CM000677.2:g.89323456G>A	GRCh38
NC_000015.9:g.89866687G>A , CM000677.1:g.89866687G>A	GRCh37
NC_000015.8:g.87667691G>A	NCBI36
NG_008218.1:g.16340C>T
NG_008218.2:g.16340C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2213C>T	ENSP00000516154.1:p.Pro738Leu
ENST00000268124.11:c.2213C>T MANE Select	ENSP00000268124.5:p.Pro738Leu
ENST00000530292.3:c.1814C>T	ENSP00000432885.2:p.Pro605Leu
ENST00000635986.2:c.2213C>T	ENSP00000490653.2:p.Pro738Leu
ENST00000636774.1:c.*780C>T	ENSP00000489799.1:n.*780C>T
ENST00000637238.1:c.910C>T	ENSP00000490756.1:n.910C>T
ENST00000637264.1:c.1285C>T
ENST00000666746.1:c.1790C>T
ENST00000670281.1:c.533C>T	ENSP00000499709.1:p.Pro178Leu
ENST00000672071.1:n.2411C>T
ENST00000672923.2:n.2316C>T
ENST00000268124.9:c.2213C>T	ENSP00000268124.5:p.Pro738Leu
ENST00000442287.6:c.2213C>T	ENSP00000399851.2:p.Pro738Leu
ENST00000526314.2:c.539+359C>T
ENST00000526398.1:c.362C>T
ENST00000532584.5:n.415C>T
ENST00000631044.2:c.*1637C>T	ENSP00000486730.1:n.*1637C>T
NM_001126131.1:c.2213C>T	NP_001119603.1:p.Pro738Leu
NM_002693.2:c.2213C>T	NP_002684.1:p.Pro738Leu
NM_001126131.2:c.2213C>T	NP_001119603.1:p.Pro738Leu
NM_002693.3:c.2213C>T MANE Select	NP_002684.1:p.Pro738Leu