Canonical Allele Identifier: CA316846

Gene: POLG

Linked Data

• ClinVar Variation Id: 206602
• ClinVar RCV Id: RCV000188667 ; RCV001348402 ; RCV001814096 ; RCV003226244 ; RCV001847837
• dbSNP Id: rs367610201
• ExAC: 15:89868822 A / G
• gnomAD v2: 15-89868822-A-G
• gnomAD v3: 15-89325591-A-G
• gnomAD v4: 15-89325591-A-G
• MyVariant Identifiers: chr15:g.89868822A>G (hg19) ; chr15:g.89325591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325591A>G , CM000677.2:g.89325591A>G	GRCh38
NC_000015.9:g.89868822A>G , CM000677.1:g.89868822A>G	GRCh37
NC_000015.8:g.87669826A>G	NCBI36
NG_008218.1:g.14205T>C
NG_008218.2:g.14205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1808T>C	ENSP00000516154.1:p.Met603Thr
ENST00000268124.11:c.1808T>C MANE Select	ENSP00000268124.5:p.Met603Thr
ENST00000530292.3:c.1409T>C	ENSP00000432885.2:p.Met470Thr
ENST00000635986.2:c.1808T>C	ENSP00000490653.2:p.Met603Thr
ENST00000636774.1:c.*375T>C	ENSP00000489799.1:n.*375T>C
ENST00000637238.1:c.545T>C	ENSP00000490756.1:p.Met182Thr
ENST00000637264.1:c.880T>C
ENST00000666746.1:c.1385T>C
ENST00000670281.1:c.128T>C	ENSP00000499709.1:p.Met43Thr
ENST00000672071.1:n.2006T>C
ENST00000672923.2:n.1911T>C
ENST00000268124.9:c.1808T>C	ENSP00000268124.5:p.Met603Thr
ENST00000442287.6:c.1808T>C	ENSP00000399851.2:p.Met603Thr
ENST00000526314.2:c.190T>C
ENST00000532584.5:n.10T>C
ENST00000631044.2:c.*1191T>C	ENSP00000486730.1:n.*1191T>C
NM_001126131.1:c.1808T>C	NP_001119603.1:p.Met603Thr
NM_002693.2:c.1808T>C	NP_002684.1:p.Met603Thr
NM_001126131.2:c.1808T>C	NP_001119603.1:p.Met603Thr
NM_002693.3:c.1808T>C MANE Select	NP_002684.1:p.Met603Thr