Canonical Allele Identifier: CA393750572

Gene: POLG

Linked Data

• dbSNP Id: rs2152059265
• gnomAD v3: 15-89318980-A-G
• gnomAD v4: 15-89318980-A-G
• MyVariant Identifiers: chr15:g.89862211A>G (hg19) ; chr15:g.89318980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318980A>G , CM000677.2:g.89318980A>G	GRCh38
NC_000015.9:g.89862211A>G , CM000677.1:g.89862211A>G	GRCh37
NC_000015.8:g.87663215A>G	NCBI36
NG_008218.1:g.20816T>C
NG_011736.1:g.80018A>G , LRG_500:g.80018A>G
NG_008218.2:g.20816T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3224T>C	ENSP00000516154.1:p.Leu1075Pro
ENST00000268124.11:c.3224T>C MANE Select	ENSP00000268124.5:p.Leu1075Pro
ENST00000530292.3:c.2825T>C	ENSP00000432885.2:p.Leu942Pro
ENST00000635986.2:c.*294T>C	ENSP00000490653.2:n.*294T>C
ENST00000636774.1:c.*1791T>C	ENSP00000489799.1:n.*1791T>C
ENST00000637238.1:c.2033T>C	ENSP00000490756.1:n.2033T>C
ENST00000637264.1:c.2296T>C
ENST00000666746.1:c.2801T>C
ENST00000672071.1:n.3422T>C
ENST00000672695.1:n.401T>C
ENST00000672923.2:n.3224T>C
ENST00000268124.9:c.3224T>C	ENSP00000268124.5:p.Leu1075Pro
ENST00000442287.6:c.3224T>C	ENSP00000399851.2:p.Leu1075Pro
ENST00000530292.2:c.308T>C	ENSP00000432885.1:p.Leu103Pro
ENST00000631044.2:c.*2648T>C	ENSP00000486730.1:n.*2648T>C
NM_001126131.1:c.3224T>C	NP_001119603.1:p.Leu1075Pro
NM_002693.2:c.3224T>C	NP_002684.1:p.Leu1075Pro
NM_001126131.2:c.3224T>C	NP_001119603.1:p.Leu1075Pro
NM_002693.3:c.3224T>C MANE Select	NP_002684.1:p.Leu1075Pro