Canonical Allele Identifier: CA6913523

Gene: C1QTNF9B PCOTH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23891545T>C , CM000675.2:g.23891545T>C	GRCh38
NC_000013.10:g.24465684T>C , CM000675.1:g.24465684T>C	GRCh37
NC_000013.9:g.23363684T>C	NCBI36
NG_052977.1:g.2904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713589.1:c.746A>G (C1QTNF9B) MANE Select	ENSP00000518885.1:p.Tyr249Cys
NM_001007537.2:c.746A>G (C1QTNF9B)	NP_001007538.1:p.Tyr249Cys
NM_001014442.2:c.5+14T>C (PCOTH)	NP_001014442.2:n.5+14T>C
NM_001014442.3:c.5+14T>C (PCOTH)	NP_001014442.2:n.5+14T>C
NM_001014442.4:c.5+14T>C (PCOTH)	NP_001014442.2:n.5+14T>C
NM_001135816.1:c.33-68T>C (PCOTH)	NP_001129288.1:n.33-68T>C
NM_001135816.2:c.33-68T>C (PCOTH)	NP_001129288.1:n.33-68T>C
NM_001135816.3:c.33-68T>C (PCOTH)	NP_001129288.1:n.33-68T>C
NM_001348112.1:c.33-68T>C (PCOTH)	NP_001335041.1:n.33-68T>C
NM_001348112.2:c.33-68T>C (PCOTH)	NP_001335041.1:n.33-68T>C
NM_001348113.1:c.5+14T>C (PCOTH)	NP_001335042.1:n.5+14T>C
NM_001348113.2:c.5+14T>C (PCOTH)	NP_001335042.1:n.5+14T>C
NM_001348114.1:c.5+14T>C (PCOTH)	NP_001335043.1:n.5+14T>C
NM_001348114.2:c.5+14T>C (PCOTH)	NP_001335043.1:n.5+14T>C
NR_104426.1:n.476-34A>G (C1QTNF9B)
NR_172510.1:n.334+14T>C (PCOTH)
NR_172511.1:n.198-68T>C (PCOTH)
NR_172512.1:n.313-68T>C (PCOTH)
NR_172513.1:n.278+14T>C (PCOTH)
NR_172514.1:n.392+14T>C (PCOTH)
NR_172515.1:n.382-68T>C (PCOTH)
NR_172516.1:n.462+14T>C (PCOTH)
ENST00000382137.7:c.746A>G (C1QTNF9B)	ENSP00000371572.3:p.Tyr249Cys
ENST00000382137.8:c.746A>G (C1QTNF9B)	ENSP00000371572.3:p.Tyr249Cys
ENST00000382140.2:c.746A>G (C1QTNF9B)	ENSP00000371575.2:p.Tyr249Cys
ENST00000382145.5:c.266-34A>G (C1QTNF9B)	ENSP00000371580.1:n.266-34A>G
ENST00000556521.1:n.467-34A>G (C1QTNF9B)
XM_011535070.1:c.746A>G (C1QTNF9B)	XP_011533372.1:p.Tyr249Cys