Canonical Allele Identifier: CA393528989

Gene: PEAK1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77179977T>G , CM000677.2:g.77179977T>G	GRCh38
NC_000015.9:g.77472319T>G , CM000677.1:g.77472319T>G	GRCh37
NC_000015.8:g.75259374T>G	NCBI36
NG_034037.1:g.245128A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682557.1:c.1950A>C MANE Select	ENSP00000507603.1:p.Glu650Asp
ENST00000312493.5:c.1950A>C	ENSP00000309230.4:p.Glu650Asp
ENST00000558305.5:c.1950A>C	ENSP00000453924.1:p.Glu650Asp
ENST00000560626.6:c.1950A>C	ENSP00000452796.2:p.Glu650Asp
ENST00000564328.5:c.1950A>C	ENSP00000457880.1:p.Glu650Asp
NM_024776.3:c.1950A>C	NP_079052.2:p.Glu650Asp
XM_005254670.1:c.1950A>C	XP_005254727.1:p.Glu650Asp
XM_005254671.1:c.1950A>C	XP_005254728.1:p.Glu650Asp
XM_005254673.1:c.1950A>C	XP_005254730.1:p.Glu650Asp
XM_005254674.1:c.1950A>C	XP_005254731.1:p.Glu650Asp
XM_005254675.3:c.1950A>C	XP_005254732.1:p.Glu650Asp
XM_011522033.1:c.1950A>C	XP_011520335.1:p.Glu650Asp
XM_011522034.1:c.1950A>C	XP_011520336.1:p.Glu650Asp
XM_011522035.1:c.1950A>C	XP_011520337.1:p.Glu650Asp
XM_011522036.1:c.1950A>C	XP_011520338.1:p.Glu650Asp
XM_011522037.1:c.1950A>C	XP_011520339.1:p.Glu650Asp
XM_011522038.1:c.1950A>C	XP_011520340.1:p.Glu650Asp
XM_011522039.1:c.1950A>C	XP_011520341.1:p.Glu650Asp
XM_011522040.1:c.1950A>C	XP_011520342.1:p.Glu650Asp
XM_011522041.1:c.1950A>C	XP_011520343.1:p.Glu650Asp
XM_005254670.2:c.1950A>C	XP_005254727.1:p.Glu650Asp
XM_005254671.2:c.1950A>C	XP_005254728.1:p.Glu650Asp
XM_005254673.2:c.1950A>C	XP_005254730.1:p.Glu650Asp
XM_005254674.2:c.1950A>C	XP_005254731.1:p.Glu650Asp
XM_005254675.4:c.1950A>C	XP_005254732.1:p.Glu650Asp
XM_011522033.2:c.1950A>C	XP_011520335.1:p.Glu650Asp
XM_011522034.2:c.1950A>C	XP_011520336.1:p.Glu650Asp
XM_011522035.2:c.1950A>C	XP_011520337.1:p.Glu650Asp
XM_011522036.2:c.1950A>C	XP_011520338.1:p.Glu650Asp
XM_011522037.2:c.1950A>C	XP_011520339.1:p.Glu650Asp
XM_011522038.2:c.1950A>C	XP_011520340.1:p.Glu650Asp
XM_011522039.2:c.1950A>C	XP_011520341.1:p.Glu650Asp
XM_024450056.1:c.1950A>C	XP_024305824.1:p.Glu650Asp
XM_024450057.1:c.1950A>C	XP_024305825.1:p.Glu650Asp
XM_024450058.1:c.1950A>C	XP_024305826.1:p.Glu650Asp
XM_024450059.1:c.1950A>C	XP_024305827.1:p.Glu650Asp
XM_024450060.1:c.1950A>C	XP_024305828.1:p.Glu650Asp
XM_024450061.1:c.1950A>C	XP_024305829.1:p.Glu650Asp
XM_024450062.1:c.1950A>C	XP_024305830.1:p.Glu650Asp
XM_024450063.1:c.1950A>C	XP_024305831.1:p.Glu650Asp
XM_024450064.1:c.1950A>C	XP_024305832.1:p.Glu650Asp
NM_024776.4:c.1950A>C	NP_079052.2:p.Glu650Asp
NM_001385026.1:c.1950A>C MANE Select	NP_001371955.1:p.Glu650Asp
NM_001385027.1:c.1950A>C	NP_001371956.1:p.Glu650Asp
NM_001387085.1:c.1950A>C	NP_001374014.1:p.Glu650Asp
NM_001387086.1:c.1950A>C	NP_001374015.1:p.Glu650Asp
NM_024776.5:c.1950A>C	NP_079052.2:p.Glu650Asp