Canonical Allele Identifier: CA6913474

Gene: C1QTNF9B PCOTH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23891356T>C , CM000675.2:g.23891356T>C	GRCh38
NC_000013.10:g.24465495T>C , CM000675.1:g.24465495T>C	GRCh37
NC_000013.9:g.23363495T>C	NCBI36
NG_052977.1:g.3093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713589.1:c.935A>G (C1QTNF9B) MANE Select	ENSP00000518885.1:p.Asn312Ser
NM_001007537.2:c.935A>G (C1QTNF9B)	NP_001007538.1:p.Asn312Ser
NM_001014442.2:c.-142-29T>C (PCOTH)	NP_001014442.2:n.-142-29T>C
NM_001014442.3:c.-142-29T>C (PCOTH)	NP_001014442.2:n.-142-29T>C
NM_001014442.4:c.-142-29T>C (PCOTH)	NP_001014442.2:n.-142-29T>C
NM_001135816.1:c.-34-29T>C (PCOTH)	NP_001129288.1:n.-34-29T>C
NM_001135816.2:c.-34-29T>C (PCOTH)	NP_001129288.1:n.-34-29T>C
NM_001135816.3:c.-34-29T>C (PCOTH)	NP_001129288.1:n.-34-29T>C
NM_001348112.1:c.-63T>C (PCOTH)	NP_001335041.1:n.-63T>C
NM_001348112.2:c.-63T>C (PCOTH)	NP_001335041.1:n.-63T>C
NM_001348113.1:c.-142-29T>C (PCOTH)	NP_001335042.1:n.-142-29T>C
NM_001348113.2:c.-142-29T>C (PCOTH)	NP_001335042.1:n.-142-29T>C
NM_001348114.1:c.-142-29T>C (PCOTH)	NP_001335043.1:n.-142-29T>C
NM_001348114.2:c.-142-29T>C (PCOTH)	NP_001335043.1:n.-142-29T>C
NR_104426.1:n.631A>G (C1QTNF9B)
NR_172510.1:n.188-29T>C (PCOTH)
NR_172511.1:n.132-29T>C (PCOTH)
NR_172512.1:n.218T>C (PCOTH)
NR_172513.1:n.132-29T>C (PCOTH)
NR_172514.1:n.246-29T>C (PCOTH)
NR_172515.1:n.316-29T>C (PCOTH)
NR_172516.1:n.316-29T>C (PCOTH)
ENST00000382137.7:c.935A>G (C1QTNF9B)	ENSP00000371572.3:p.Asn312Ser
ENST00000382137.8:c.935A>G (C1QTNF9B)	ENSP00000371572.3:p.Asn312Ser
ENST00000382140.2:c.935A>G (C1QTNF9B)	ENSP00000371575.2:p.Asn312Ser
ENST00000382145.5:c.*121A>G (C1QTNF9B)	ENSP00000371580.1:n.*121A>G
ENST00000556521.1:n.622A>G (C1QTNF9B)
XM_011535070.1:c.935A>G (C1QTNF9B)	XP_011533372.1:p.Asn312Ser