Canonical Allele Identifier: CA7676671

Gene: PEAK1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77133039T>C , CM000677.2:g.77133039T>C	GRCh38
NC_000015.9:g.77425381T>C , CM000677.1:g.77425381T>C	GRCh37
NC_000015.8:g.75212436T>C	NCBI36
NG_034037.1:g.292066A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001385026.1:c.4043A>G MANE Select	NP_001371955.1:p.Tyr1348Cys
ENST00000682557.1:c.4043A>G MANE Select	ENSP00000507603.1:p.Tyr1348Cys
NM_001387085.1:c.4043A>G	NP_001374014.1:p.Tyr1348Cys
NM_001387086.1:c.4043A>G	NP_001374015.1:p.Tyr1348Cys
NM_024776.3:c.4043A>G	NP_079052.2:p.Tyr1348Cys
NM_024776.4:c.4043A>G	NP_079052.2:p.Tyr1348Cys
NM_024776.5:c.4043A>G	NP_079052.2:p.Tyr1348Cys
ENST00000312493.5:c.4043A>G	ENSP00000309230.4:p.Tyr1348Cys
ENST00000560626.6:c.4043A>G	ENSP00000452796.2:p.Tyr1348Cys
XM_005254670.1:c.4043A>G	XP_005254727.1:p.Tyr1348Cys
XM_005254670.2:c.4043A>G	XP_005254727.1:p.Tyr1348Cys
XM_005254671.1:c.4043A>G	XP_005254728.1:p.Tyr1348Cys
XM_005254671.2:c.4043A>G	XP_005254728.1:p.Tyr1348Cys
XM_005254673.1:c.4043A>G	XP_005254730.1:p.Tyr1348Cys
XM_005254673.2:c.4043A>G	XP_005254730.1:p.Tyr1348Cys
XM_005254674.1:c.4043A>G	XP_005254731.1:p.Tyr1348Cys
XM_005254674.2:c.4043A>G	XP_005254731.1:p.Tyr1348Cys
XM_005254675.3:c.4043A>G	XP_005254732.1:p.Tyr1348Cys
XM_005254675.4:c.4043A>G	XP_005254732.1:p.Tyr1348Cys
XM_011522033.1:c.4043A>G	XP_011520335.1:p.Tyr1348Cys
XM_011522033.2:c.4043A>G	XP_011520335.1:p.Tyr1348Cys
XM_011522034.1:c.4043A>G	XP_011520336.1:p.Tyr1348Cys
XM_011522034.2:c.4043A>G	XP_011520336.1:p.Tyr1348Cys
XM_011522035.1:c.4043A>G	XP_011520337.1:p.Tyr1348Cys
XM_011522035.2:c.4043A>G	XP_011520337.1:p.Tyr1348Cys
XM_011522036.1:c.4043A>G	XP_011520338.1:p.Tyr1348Cys
XM_011522036.2:c.4043A>G	XP_011520338.1:p.Tyr1348Cys
XM_011522037.1:c.4043A>G	XP_011520339.1:p.Tyr1348Cys
XM_011522037.2:c.4043A>G	XP_011520339.1:p.Tyr1348Cys
XM_011522038.1:c.4043A>G	XP_011520340.1:p.Tyr1348Cys
XM_011522038.2:c.4043A>G	XP_011520340.1:p.Tyr1348Cys
XM_011522039.1:c.4043A>G	XP_011520341.1:p.Tyr1348Cys
XM_011522039.2:c.4043A>G	XP_011520341.1:p.Tyr1348Cys
XM_011522040.1:c.4043A>G	XP_011520342.1:p.Tyr1348Cys
XM_011522042.1:c.935A>G	XP_011520344.1:p.Tyr312Cys
XM_011522042.2:c.935A>G	XP_011520344.1:p.Tyr312Cys
XM_024450056.1:c.4043A>G	XP_024305824.1:p.Tyr1348Cys
XM_024450057.1:c.4043A>G	XP_024305825.1:p.Tyr1348Cys
XM_024450058.1:c.4043A>G	XP_024305826.1:p.Tyr1348Cys
XM_024450059.1:c.4043A>G	XP_024305827.1:p.Tyr1348Cys
XM_024450060.1:c.4043A>G	XP_024305828.1:p.Tyr1348Cys
XM_024450061.1:c.4043A>G	XP_024305829.1:p.Tyr1348Cys
XM_024450062.1:c.4043A>G	XP_024305830.1:p.Tyr1348Cys
XM_024450063.1:c.4043A>G	XP_024305831.1:p.Tyr1348Cys
XM_024450064.1:c.4043A>G	XP_024305832.1:p.Tyr1348Cys