Canonical Allele Identifier: CA492069643

Gene: POLG FANCI

Linked Data

• MyVariant Identifiers: chr15:g.89860012G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89316781G>C , CM000677.2:g.89316781G>C	GRCh38
NC_000015.9:g.89860012G>C , CM000677.1:g.89860012G>C	GRCh37
NC_000015.8:g.87661016G>C	NCBI36
NG_008218.1:g.23015C>G
NG_011736.1:g.77819G>C , LRG_500:g.77819G>C
NG_008218.2:g.23015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3690C>G (POLG)	ENSP00000516154.1:p.Ser1230=
ENST00000696717.1:c.*322G>C (FANCI)	ENSP00000512830.1:n.*322G>C
ENST00000696718.1:c.*322G>C (FANCI)	ENSP00000512831.1:n.*322G>C
ENST00000696719.1:c.*322G>C (FANCI)	ENSP00000512832.1:n.*322G>C
ENST00000268124.11:c.3690C>G (POLG) MANE Select	ENSP00000268124.5:p.Ser1230=
ENST00000310775.12:c.*322G>C (FANCI) MANE Select	ENSP00000310842.8:n.*322G>C
ENST00000530292.3:c.3390C>G (POLG)	ENSP00000432885.2:n.3390C>G
ENST00000635986.2:c.*760C>G (POLG)	ENSP00000490653.2:n.*760C>G
ENST00000636774.1:c.*2294C>G (POLG)	ENSP00000489799.1:n.*2294C>G
ENST00000637238.1:c.2598C>G (POLG)	ENSP00000490756.1:n.2598C>G
ENST00000637264.1:c.2702C>G (POLG)
ENST00000666746.1:c.3267C>G (POLG)
ENST00000672071.1:n.4892C>G (POLG)
ENST00000672695.1:n.1469C>G (POLG)
ENST00000672923.2:n.3690C>G (POLG)
ENST00000675352.1:n.3514G>C (FANCI)
ENST00000676003.1:c.*322G>C (FANCI)	ENSP00000502254.1:n.*322G>C
ENST00000676110.1:n.3890G>C (FANCI)
ENST00000268124.9:c.3690C>G (POLG)	ENSP00000268124.5:p.Ser1230=
ENST00000300027.12:c.*322G>C (FANCI)	ENSP00000300027.8:n.*322G>C
ENST00000310775.11:c.*322G>C (FANCI)	ENSP00000310842.7:n.*322G>C
ENST00000442287.6:c.3690C>G (POLG)	ENSP00000399851.2:p.Ser1230=
ENST00000526671.1:n.500C>G (POLG)
ENST00000530292.2:c.873C>G (POLG)	ENSP00000432885.1:n.873C>G
ENST00000566895.5:n.4316G>C (FANCI)
ENST00000631044.2:c.*3114C>G (POLG)	ENSP00000486730.1:n.*3114C>G
NM_001113378.1:c.*322G>C , LRG_500t1:c.*322G>C (FANCI)	NP_001106849.1:n.*322G>C
NM_001126131.1:c.3690C>G (POLG)	NP_001119603.1:p.Ser1230=
NM_002693.2:c.3690C>G (POLG)	NP_002684.1:p.Ser1230=
NM_018193.2:c.*322G>C (FANCI)	NP_060663.2:n.*322G>C
XM_011521756.1:c.*322G>C (FANCI)	XP_011520058.1:n.*322G>C
XM_011521757.1:c.*322G>C (FANCI)	XP_011520059.1:n.*322G>C
XM_011521758.1:c.*322G>C (FANCI)	XP_011520060.1:n.*322G>C
XM_011521759.1:c.*322G>C (FANCI)	XP_011520061.1:n.*322G>C
XM_011521760.1:c.*322G>C (FANCI)	XP_011520062.1:n.*322G>C
XM_011521761.1:c.*322G>C (FANCI)	XP_011520063.1:n.*322G>C
XM_011521762.1:c.*322G>C (FANCI)	XP_011520064.1:n.*322G>C
XM_011521763.1:c.*322G>C (FANCI)	XP_011520065.1:n.*322G>C
XM_011521764.1:c.*322G>C (FANCI)	XP_011520066.1:n.*322G>C
XM_011521765.1:c.*322G>C (FANCI)	XP_011520067.1:n.*322G>C
XM_011521766.1:c.*322G>C (FANCI)	XP_011520068.1:n.*322G>C
XM_011521767.1:c.*322G>C (FANCI)	XP_011520069.1:n.*322G>C
XM_011521769.1:c.*322G>C (FANCI)	XP_011520071.1:n.*322G>C
XM_011521756.2:c.*322G>C (FANCI)	XP_011520058.1:n.*322G>C
XM_011521757.2:c.*322G>C (FANCI)	XP_011520059.1:n.*322G>C
XM_011521764.2:c.*322G>C (FANCI)	XP_011520066.1:n.*322G>C
XM_011521767.2:c.*322G>C (FANCI)	XP_011520069.1:n.*322G>C
NM_001113378.2:c.*322G>C (FANCI) MANE Select	NP_001106849.1:n.*322G>C
NM_001126131.2:c.3690C>G (POLG)	NP_001119603.1:p.Ser1230=
NM_001376910.1:c.*322G>C (FANCI)	NP_001363839.1:n.*322G>C
NM_001376911.1:c.*322G>C (FANCI)	NP_001363840.1:n.*322G>C
NM_018193.3:c.*322G>C (FANCI)	NP_060663.2:n.*322G>C
NM_002693.3:c.3690C>G (POLG) MANE Select	NP_002684.1:p.Ser1230=