Canonical Allele Identifier: CA492071960

Gene: POLG

Linked Data

• ClinVar Variation Id: 1727307
• ClinVar RCV Id: RCV002319822
• MyVariant Identifiers: chr15:g.89862488C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319257C>G , CM000677.2:g.89319257C>G	GRCh38
NC_000015.9:g.89862488C>G , CM000677.1:g.89862488C>G	GRCh37
NC_000015.8:g.87663492C>G	NCBI36
NG_008218.1:g.20539G>C
NG_008218.2:g.20539G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3075G>C	ENSP00000516154.1:p.Leu1025=
ENST00000268124.11:c.3075G>C MANE Select	ENSP00000268124.5:p.Leu1025=
ENST00000530292.3:c.2676G>C	ENSP00000432885.2:p.Leu892=
ENST00000635986.2:c.*145G>C	ENSP00000490653.2:n.*145G>C
ENST00000636530.1:n.35G>C
ENST00000636774.1:c.*1642G>C	ENSP00000489799.1:n.*1642G>C
ENST00000637238.1:c.1884G>C	ENSP00000490756.1:n.1884G>C
ENST00000637264.1:c.2147G>C
ENST00000666746.1:c.2652G>C
ENST00000672071.1:n.3273G>C
ENST00000672695.1:n.252G>C
ENST00000672923.2:n.3075G>C
ENST00000268124.9:c.3075G>C	ENSP00000268124.5:p.Leu1025=
ENST00000442287.6:c.3075G>C	ENSP00000399851.2:p.Leu1025=
ENST00000530292.2:c.159G>C	ENSP00000432885.1:p.Leu53=
ENST00000631044.2:c.*2499G>C	ENSP00000486730.1:n.*2499G>C
NM_001126131.1:c.3075G>C	NP_001119603.1:p.Leu1025=
NM_002693.2:c.3075G>C	NP_002684.1:p.Leu1025=
NM_001126131.2:c.3075G>C	NP_001119603.1:p.Leu1025=
NM_002693.3:c.3075G>C MANE Select	NP_002684.1:p.Leu1025=