Canonical Allele Identifier: CA316652

Gene: POLG

Linked Data

• ClinVar Variation Id: 206503
• ClinVar RCV Id: RCV000758443 ; RCV001705035
• dbSNP Id: rs773994204
• ExAC: 15:89868726 G / A
• gnomAD v2: 15-89868726-G-A
• gnomAD v3: 15-89325495-G-A
• gnomAD v4: 15-89325495-G-A
• MyVariant Identifiers: chr15:g.89868726G>A (hg19) ; chr15:g.89325495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325495G>A , CM000677.2:g.89325495G>A	GRCh38
NC_000015.9:g.89868726G>A , CM000677.1:g.89868726G>A	GRCh37
NC_000015.8:g.87669730G>A	NCBI36
NG_008218.1:g.14301C>T
NG_008218.2:g.14301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1904C>T	ENSP00000516154.1:p.Pro635Leu
ENST00000268124.11:c.1904C>T MANE Select	ENSP00000268124.5:p.Pro635Leu
ENST00000530292.3:c.1505C>T	ENSP00000432885.2:p.Pro502Leu
ENST00000635986.2:c.1904C>T	ENSP00000490653.2:p.Pro635Leu
ENST00000636774.1:c.*471C>T	ENSP00000489799.1:n.*471C>T
ENST00000637238.1:c.641C>T	ENSP00000490756.1:p.Pro214Leu
ENST00000637264.1:c.976C>T
ENST00000666746.1:c.1481C>T
ENST00000670281.1:c.224C>T	ENSP00000499709.1:p.Pro75Leu
ENST00000672071.1:n.2102C>T
ENST00000672923.2:n.2007C>T
ENST00000268124.9:c.1904C>T	ENSP00000268124.5:p.Pro635Leu
ENST00000442287.6:c.1904C>T	ENSP00000399851.2:p.Pro635Leu
ENST00000526314.2:c.286C>T
ENST00000526398.1:c.93C>T
ENST00000532584.5:n.106C>T
ENST00000631044.2:c.*1287C>T	ENSP00000486730.1:n.*1287C>T
NM_001126131.1:c.1904C>T	NP_001119603.1:p.Pro635Leu
NM_002693.2:c.1904C>T	NP_002684.1:p.Pro635Leu
NM_001126131.2:c.1904C>T	NP_001119603.1:p.Pro635Leu
NM_002693.3:c.1904C>T MANE Select	NP_002684.1:p.Pro635Leu