Canonical Allele Identifier: CA2212722

Gene: PASK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241112261G>A , CM000664.2:g.241112261G>A	GRCh38
NC_000002.11:g.242051676G>A , CM000664.1:g.242051676G>A	GRCh37
NC_000002.10:g.241700349G>A	NCBI36
NG_052850.1:g.43087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234040.9:c.3512C>T MANE Select	ENSP00000234040.5:p.Pro1171Leu
ENST00000234040.8:c.3512C>T	ENSP00000234040.4:p.Pro1171Leu
ENST00000358649.8:c.3533C>T	ENSP00000351475.4:p.Pro1178Leu
ENST00000405260.5:c.3512C>T	ENSP00000384016.1:p.Pro1171Leu
ENST00000475666.1:n.165C>T
ENST00000489256.5:n.526C>T
ENST00000544142.5:c.3512C>T	ENSP00000441374.2:p.Pro1171Leu
NM_001252119.1:c.3533C>T	NP_001239048.1:p.Pro1178Leu
NM_001252120.1:c.3512C>T	NP_001239049.1:p.Pro1171Leu
NM_001252122.1:c.3407C>T	NP_001239051.1:p.Pro1136Leu
NM_015148.3:c.3512C>T	NP_055963.2:p.Pro1171Leu
XM_005246991.1:c.2864C>T	XP_005247048.1:p.Pro955Leu
XM_011510826.1:c.3608C>T	XP_011509128.1:p.Pro1203Leu
XM_011510827.1:c.3587C>T	XP_011509129.1:p.Pro1196Leu
XM_011510828.1:c.3533C>T	XP_011509130.1:p.Pro1178Leu
XM_011510829.1:c.3533C>T	XP_011509131.1:p.Pro1178Leu
XM_011510830.1:c.3533C>T	XP_011509132.1:p.Pro1178Leu
XM_011510831.1:c.2975C>T	XP_011509133.1:p.Pro992Leu
XM_011510832.1:c.2954C>T	XP_011509134.1:p.Pro985Leu
XM_011510833.1:c.2885C>T	XP_011509135.1:p.Pro962Leu
XM_011510834.1:c.2375C>T	XP_011509136.1:p.Pro792Leu
XM_011510835.1:c.2162C>T	XP_011509137.1:p.Pro721Leu
XR_922893.1:n.3638C>T
XM_011510829.2:c.3533C>T	XP_011509131.1:p.Pro1178Leu
XM_011510830.2:c.3533C>T	XP_011509132.1:p.Pro1178Leu
XM_011510831.2:c.2975C>T	XP_011509133.1:p.Pro992Leu
XM_011510832.2:c.2954C>T	XP_011509134.1:p.Pro985Leu
XM_017003635.1:c.3512C>T	XP_016859124.1:p.Pro1171Leu
XM_017003636.1:c.3512C>T	XP_016859125.1:p.Pro1171Leu
XR_001738678.2:n.3658C>T
NM_001252119.2:c.3533C>T	NP_001239048.1:p.Pro1178Leu
NM_001252122.2:c.3407C>T	NP_001239051.1:p.Pro1136Leu
NM_015148.4:c.3512C>T MANE Select	NP_055963.2:p.Pro1171Leu
NM_001252120.2:c.3512C>T	NP_001239049.1:p.Pro1171Leu