Canonical Allele Identifier: CA2838206388

Gene: PITPNB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27910893T>C , CM000684.2:g.27910893T>C	GRCh38
NC_000022.10:g.28306881T>C , CM000684.1:g.28306881T>C	GRCh37
NC_000022.9:g.26636881T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335272.10:c.197+71A>G MANE Select	ENSP00000334738.5:n.197+71A>G
ENST00000320996.14:c.197+71A>G	ENSP00000321266.10:n.197+71A>G
ENST00000335272.9:c.197+71A>G	ENSP00000334738.5:n.197+71A>G
ENST00000415296.5:c.-23+71A>G	ENSP00000406542.1:n.-23+71A>G
ENST00000436663.1:c.203+71A>G	ENSP00000403675.1:n.203+71A>G
ENST00000455418.7:c.197+71A>G	ENSP00000405179.4:n.197+71A>G
ENST00000460566.5:n.262+71A>G
ENST00000471825.1:n.321A>G
ENST00000634017.1:c.203+71A>G	ENSP00000487693.1:n.203+71A>G
NM_001284277.1:c.197+71A>G	NP_001271206.1:n.197+71A>G
NM_001284278.1:c.203+71A>G	NP_001271207.1:n.203+71A>G
NM_012399.4:c.197+71A>G	NP_036531.1:n.197+71A>G
XM_011530052.1:c.203+71A>G	XP_011528354.1:n.203+71A>G
XM_011530052.2:c.203+71A>G	XP_011528354.1:n.203+71A>G
XM_017028707.1:c.203+71A>G	XP_016884196.1:n.203+71A>G
XR_001755190.1:n.269+71A>G
XR_002958679.1:n.269+71A>G
NM_012399.5:c.197+71A>G MANE Select	NP_036531.1:n.197+71A>G
NM_001284277.2:c.197+71A>G	NP_001271206.1:n.197+71A>G
NM_001284278.2:c.203+71A>G	NP_001271207.1:n.203+71A>G