Canonical Allele Identifier: CA4484718

Gene: CPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130381626C>T , CM000669.2:g.130381626C>T	GRCh38
NC_000007.13:g.130021467C>T , CM000669.1:g.130021467C>T	GRCh37
NC_000007.12:g.129808703C>T	NCBI36
NG_042276.1:g.6256C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001868.4:c.148-4C>T MANE Select	NP_001859.1:n.148-4C>T
ENST00000011292.8:c.148-4C>T MANE Select	ENSP00000011292.3:n.148-4C>T
NM_001868.3:c.148-4C>T	NP_001859.1:n.148-4C>T
ENST00000011292.7:c.148-4C>T	ENSP00000011292.3:n.148-4C>T
ENST00000476062.5:c.-117-4C>T	ENSP00000419408.1:n.-117-4C>T
ENST00000481342.5:c.-117-4C>T	ENSP00000420218.1:n.-117-4C>T
ENST00000484324.1:c.-117-4C>T	ENSP00000419497.1:n.-117-4C>T
ENST00000491460.5:n.175-69C>T
ENST00000604896.5:c.141+480C>T	ENSP00000475021.1:n.141+480C>T