Canonical Allele Identifier: CA2194550337

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325595G= , CM000677.2:g.89325595G=	GRCh38
NC_000015.9:g.89868826G= , CM000677.1:g.89868826G=	GRCh37
NC_000015.8:g.87669830G=	NCBI36
NG_008218.1:g.14201C=
NG_008218.2:g.14201C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1804C=	ENSP00000516154.1:p.Leu602=
ENST00000268124.11:c.1804C= MANE Select	ENSP00000268124.5:p.Leu602=
ENST00000530292.3:c.1405C=	ENSP00000432885.2:p.Leu469=
ENST00000635986.2:c.1804C=	ENSP00000490653.2:p.Leu602=
ENST00000636774.1:c.*371C=	ENSP00000489799.1:n.*371C=
ENST00000637238.1:c.541C=	ENSP00000490756.1:p.Leu181=
ENST00000637264.1:c.876C=
ENST00000666746.1:c.1381C=
ENST00000670281.1:c.124C=	ENSP00000499709.1:p.Leu42=
ENST00000672071.1:n.2002C=
ENST00000672923.2:n.1907C=
ENST00000268124.9:c.1804C=	ENSP00000268124.5:p.Leu602=
ENST00000442287.6:c.1804C=	ENSP00000399851.2:p.Leu602=
ENST00000526314.2:c.186C=
ENST00000532584.5:n.6C=
ENST00000631044.2:c.*1187C=	ENSP00000486730.1:n.*1187C=
NM_001126131.1:c.1804C=	NP_001119603.1:p.Leu602=
NM_002693.2:c.1804C=	NP_002684.1:p.Leu602=
NM_001126131.2:c.1804C=	NP_001119603.1:p.Leu602=
NM_002693.3:c.1804C= MANE Select	NP_002684.1:p.Leu602=