Canonical Allele Identifier: CA2608039236

Gene: PFKP

Linked Data

• gnomAD v4: 10-3112971-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3112971G>C , CM000672.2:g.3112971G>C	GRCh38
NC_000010.10:g.3155163G>C , CM000672.1:g.3155163G>C	GRCh37
NC_000010.9:g.3145163G>C	NCBI36
NG_051598.1:g.50498G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699222.1:c.1155-148G>C	ENSP00000514216.1:n.1155-148G>C
ENST00000381075.7:c.1041-148G>C	ENSP00000370465.3:n.1041-148G>C
ENST00000381125.9:c.1155-148G>C MANE Select	ENSP00000370517.4:n.1155-148G>C
ENST00000415005.6:c.507-148G>C	ENSP00000408858.2:n.507-148G>C
ENST00000676796.1:c.1041-148G>C	ENSP00000503786.1:n.1041-148G>C
ENST00000678089.1:c.*962-148G>C	ENSP00000503212.1:n.*962-148G>C
ENST00000678206.1:c.*635-148G>C	ENSP00000504635.1:n.*635-148G>C
ENST00000381075.6:c.1131-148G>C	ENSP00000370465.2:n.1131-148G>C
ENST00000381125.8:c.1155-148G>C	ENSP00000370517.4:n.1155-148G>C
ENST00000415005.5:c.507-148G>C	ENSP00000408858.1:n.507-148G>C
NM_001242339.1:c.1131-148G>C	NP_001229268.1:n.1131-148G>C
NM_002627.4:c.1155-148G>C	NP_002618.1:n.1155-148G>C
XM_005252465.3:c.1155-148G>C	XP_005252522.1:n.1155-148G>C
XM_005252466.3:c.1155-148G>C	XP_005252523.1:n.1155-148G>C
XM_005252467.2:c.1041-148G>C	XP_005252524.1:n.1041-148G>C
XM_006717449.1:c.1041-148G>C	XP_006717512.1:n.1041-148G>C
NM_001323067.1:c.1074-148G>C	NP_001309996.1:n.1074-148G>C
NM_001323068.1:c.1155-148G>C	NP_001309997.1:n.1155-148G>C
NM_001323069.1:c.648-148G>C	NP_001309998.1:n.648-148G>C
NM_001323070.1:c.507-148G>C	NP_001309999.1:n.507-148G>C
NM_001323071.1:c.1041-148G>C	NP_001310000.1:n.1041-148G>C
NM_001323072.1:c.1041-148G>C	NP_001310001.1:n.1041-148G>C
NM_001323073.1:c.507-148G>C	NP_001310002.1:n.507-148G>C
NM_001323074.1:c.507-148G>C	NP_001310003.1:n.507-148G>C
NM_001345944.1:c.1041-148G>C	NP_001332873.1:n.1041-148G>C
XM_005252465.4:c.1155-148G>C	XP_005252522.1:n.1155-148G>C
XM_005252466.4:c.1155-148G>C	XP_005252523.1:n.1155-148G>C
XM_024448038.1:c.1041-148G>C	XP_024303806.1:n.1041-148G>C
NM_002627.5:c.1155-148G>C MANE Select	NP_002618.1:n.1155-148G>C
NM_001323068.2:c.1155-148G>C	NP_001309997.1:n.1155-148G>C
NM_001323069.2:c.648-148G>C	NP_001309998.1:n.648-148G>C
NM_001323071.2:c.1041-148G>C	NP_001310000.1:n.1041-148G>C
NM_001242339.2:c.1131-148G>C	NP_001229268.1:n.1131-148G>C
NM_001323067.2:c.1074-148G>C	NP_001309996.1:n.1074-148G>C
NM_001323072.2:c.1041-148G>C	NP_001310001.1:n.1041-148G>C