Canonical Allele Identifier: CA393756758

Gene: POLG

Linked Data

• dbSNP Id: rs138457939
• MyVariant Identifiers: chr15:g.89866693T>A (hg19) ; chr15:g.89323462T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323462T>A , CM000677.2:g.89323462T>A	GRCh38
NC_000015.9:g.89866693T>A , CM000677.1:g.89866693T>A	GRCh37
NC_000015.8:g.87667697T>A	NCBI36
NG_008218.1:g.16334A>T
NG_008218.2:g.16334A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2207A>T	ENSP00000516154.1:p.Asn736Ile
ENST00000268124.11:c.2207A>T MANE Select	ENSP00000268124.5:p.Asn736Ile
ENST00000530292.3:c.1808A>T	ENSP00000432885.2:p.Asn603Ile
ENST00000635986.2:c.2207A>T	ENSP00000490653.2:p.Asn736Ile
ENST00000636774.1:c.*774A>T	ENSP00000489799.1:n.*774A>T
ENST00000637238.1:c.904A>T	ENSP00000490756.1:n.904A>T
ENST00000637264.1:c.1279A>T
ENST00000666746.1:c.1784A>T
ENST00000670281.1:c.527A>T	ENSP00000499709.1:p.Asn176Ile
ENST00000672071.1:n.2405A>T
ENST00000672923.2:n.2310A>T
ENST00000268124.9:c.2207A>T	ENSP00000268124.5:p.Asn736Ile
ENST00000442287.6:c.2207A>T	ENSP00000399851.2:p.Asn736Ile
ENST00000526314.2:c.539+353A>T
ENST00000526398.1:c.356A>T
ENST00000532584.5:n.409A>T
ENST00000631044.2:c.*1631A>T	ENSP00000486730.1:n.*1631A>T
NM_001126131.1:c.2207A>T	NP_001119603.1:p.Asn736Ile
NM_002693.2:c.2207A>T	NP_002684.1:p.Asn736Ile
NM_001126131.2:c.2207A>T	NP_001119603.1:p.Asn736Ile
NM_002693.3:c.2207A>T MANE Select	NP_002684.1:p.Asn736Ile