Canonical Allele Identifier: CA8569640

Gene: CNP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41973715C>T , CM000679.2:g.41973715C>T	GRCh38
NC_000017.10:g.40125733C>T , CM000679.1:g.40125733C>T	GRCh37
NC_000017.9:g.37379259C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033133.5:c.1057C>T MANE Select	NP_149124.3:p.Arg353Trp
ENST00000393892.8:c.1057C>T MANE Select	ENSP00000377470.2:p.Arg353Trp
NM_001330216.1:c.997C>T	NP_001317145.1:p.Arg333Trp
NM_001330216.2:c.997C>T	NP_001317145.1:p.Arg333Trp
NM_033133.4:c.1057C>T	NP_149124.3:p.Arg353Trp
ENST00000393888.1:c.997C>T	ENSP00000377466.1:p.Arg333Trp
ENST00000393892.7:c.1057C>T	ENSP00000377470.2:p.Arg353Trp
ENST00000472031.1:c.*234C>T	ENSP00000467641.1:n.*234C>T
ENST00000486438.1:n.664C>T
ENST00000592105.1:n.470C>T
XM_006721701.2:c.997C>T	XP_006721764.1:p.Arg333Trp
XM_011524340.1:c.997C>T	XP_011522642.1:p.Arg333Trp
XM_011524340.2:c.997C>T	XP_011522642.1:p.Arg333Trp