Canonical Allele Identifier: CA7724665

Gene: POLG

Linked Data

• ClinVar Variation Id: 317330
• ClinVar RCV Id: RCV000377537 ; RCV000429004 ; RCV000732052 ; RCV001482698 ; RCV003985774
• dbSNP Id: rs550592814
• ExAC: 15:89868725 C / T
• gnomAD v2: 15-89868725-C-T
• gnomAD v3: 15-89325494-C-T
• gnomAD v4: 15-89325494-C-T
• MyVariant Identifiers: chr15:g.89868725C>T (hg19) ; chr15:g.89325494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325494C>T , CM000677.2:g.89325494C>T	GRCh38
NC_000015.9:g.89868725C>T , CM000677.1:g.89868725C>T	GRCh37
NC_000015.8:g.87669729C>T	NCBI36
NG_008218.1:g.14302G>A
NG_008218.2:g.14302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1905G>A	ENSP00000516154.1:p.Pro635=
ENST00000268124.11:c.1905G>A MANE Select	ENSP00000268124.5:p.Pro635=
ENST00000530292.3:c.1506G>A	ENSP00000432885.2:p.Pro502=
ENST00000635986.2:c.1905G>A	ENSP00000490653.2:p.Pro635=
ENST00000636774.1:c.*472G>A	ENSP00000489799.1:n.*472G>A
ENST00000637238.1:c.642G>A	ENSP00000490756.1:p.Pro214=
ENST00000637264.1:c.977G>A
ENST00000666746.1:c.1482G>A
ENST00000670281.1:c.225G>A	ENSP00000499709.1:p.Pro75=
ENST00000672071.1:n.2103G>A
ENST00000672923.2:n.2008G>A
ENST00000268124.9:c.1905G>A	ENSP00000268124.5:p.Pro635=
ENST00000442287.6:c.1905G>A	ENSP00000399851.2:p.Pro635=
ENST00000526314.2:c.287G>A
ENST00000526398.1:c.94G>A
ENST00000532584.5:n.107G>A
ENST00000631044.2:c.*1288G>A	ENSP00000486730.1:n.*1288G>A
NM_001126131.1:c.1905G>A	NP_001119603.1:p.Pro635=
NM_002693.2:c.1905G>A	NP_002684.1:p.Pro635=
NM_001126131.2:c.1905G>A	NP_001119603.1:p.Pro635=
NM_002693.3:c.1905G>A MANE Select	NP_002684.1:p.Pro635=