Canonical Allele Identifier: CA7724954

Gene: POLG

Linked Data

• ClinVar Variation Id: 659431
• ClinVar RCV Id: RCV000816439
• dbSNP Id: rs751761350
• ExAC: 15:89871986 G / A
• gnomAD v2: 15-89871986-G-A
• gnomAD v3: 15-89328755-G-A
• gnomAD v4: 15-89328755-G-A
• MyVariant Identifiers: chr15:g.89871986G>A (hg19) ; chr15:g.89328755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328755G>A , CM000677.2:g.89328755G>A	GRCh38
NC_000015.9:g.89871986G>A , CM000677.1:g.89871986G>A	GRCh37
NC_000015.8:g.87672990G>A	NCBI36
NG_008218.1:g.11041C>T
NG_008218.2:g.11041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1100C>T	ENSP00000516154.1:p.Pro367Leu
ENST00000268124.11:c.1100C>T MANE Select	ENSP00000268124.5:p.Pro367Leu
ENST00000530292.3:c.701C>T	ENSP00000432885.2:p.Pro234Leu
ENST00000635986.2:c.1100C>T	ENSP00000490653.2:p.Pro367Leu
ENST00000636774.1:c.1100C>T	ENSP00000489799.1:p.Pro367Leu
ENST00000637264.1:c.172C>T
ENST00000666746.1:c.757C>T
ENST00000672071.1:n.1298C>T
ENST00000672923.2:n.97C>T
ENST00000268124.9:c.1100C>T	ENSP00000268124.5:p.Pro367Leu
ENST00000442287.6:c.1100C>T	ENSP00000399851.2:p.Pro367Leu
ENST00000631044.2:c.*483C>T	ENSP00000486730.1:n.*483C>T
NM_001126131.1:c.1100C>T	NP_001119603.1:p.Pro367Leu
NM_002693.2:c.1100C>T	NP_002684.1:p.Pro367Leu
NM_001126131.2:c.1100C>T	NP_001119603.1:p.Pro367Leu
NM_002693.3:c.1100C>T MANE Select	NP_002684.1:p.Pro367Leu