Canonical Allele Identifier: CA2463989

Gene: APPL1 ASB14

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57268430A>G , CM000665.2:g.57268430A>G	GRCh38
NC_000003.11:g.57302458A>G , CM000665.1:g.57302458A>G	GRCh37
NC_000003.10:g.57277498A>G	NCBI36
NG_047003.1:g.45694A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001142733.3:c.*1211T>C (ASB14) MANE Select	NP_001136205.2:n.*1211T>C
NM_012096.3:c.1926A>G (APPL1) MANE Select	NP_036228.1:p.Ile642Met
ENST00000288266.8:c.1926A>G (APPL1) MANE Select	ENSP00000288266.3:p.Ile642Met
ENST00000487349.6:c.*1211T>C (ASB14) MANE Select	ENSP00000419199.1:n.*1211T>C
NM_001142733.2:c.*1211T>C (ASB14)	NP_001136205.2:n.*1211T>C
NM_012096.2:c.1926A>G (APPL1)	NP_036228.1:p.Ile642Met
NM_130387.5:c.2120T>C (ASB14)	NP_569058.1:n.2120T>C
ENST00000288266.7:c.1926A>G (APPL1)	ENSP00000288266.3:p.Ile642Met
ENST00000389601.3:c.*1211T>C (ASB14)	ENSP00000374252.3:n.*1211T>C
ENST00000487349.5:c.*1211T>C (ASB14)	ENSP00000419199.1:n.*1211T>C
ENST00000650354.1:c.1926A>G (APPL1)	ENSP00000498115.1:p.Ile642Met
XM_011533583.1:c.1875A>G (APPL1)	XP_011531885.1:p.Ile625Met
XM_011533583.3:c.1875A>G (APPL1)	XP_011531885.1:p.Ile625Met