Canonical Allele Identifier: CA6913492

Gene: C1QTNF9B PCOTH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23891423T>C , CM000675.2:g.23891423T>C	GRCh38
NC_000013.10:g.24465562T>C , CM000675.1:g.24465562T>C	GRCh37
NC_000013.9:g.23363562T>C	NCBI36
NG_052977.1:g.3026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382137.8:c.868A>G (C1QTNF9B)	ENSP00000371572.3:p.Ser290Gly
ENST00000713589.1:c.868A>G (C1QTNF9B) MANE Select	ENSP00000518885.1:p.Ser290Gly
ENST00000382137.7:c.868A>G (C1QTNF9B)	ENSP00000371572.3:p.Ser290Gly
ENST00000382140.2:c.868A>G (C1QTNF9B)	ENSP00000371575.2:p.Ser290Gly
ENST00000382145.5:c.*54A>G (C1QTNF9B)	ENSP00000371580.1:n.*54A>G
ENST00000556521.1:n.555A>G (C1QTNF9B)
NM_001007537.2:c.868A>G (C1QTNF9B)	NP_001007538.1:p.Ser290Gly
NM_001014442.2:c.-104T>C (PCOTH)	NP_001014442.2:n.-104T>C
NM_001135816.1:c.5T>C (PCOTH)	NP_001129288.1:p.Leu2Pro
NR_104426.1:n.564A>G (C1QTNF9B)
XM_011535070.1:c.868A>G (C1QTNF9B)	XP_011533372.1:p.Ser290Gly
NM_001014442.3:c.-104T>C (PCOTH)	NP_001014442.2:n.-104T>C
NM_001135816.2:c.5T>C (PCOTH)	NP_001129288.1:p.Leu2Pro
NM_001348112.1:c.5T>C (PCOTH)	NP_001335041.1:p.Leu2Pro
NM_001348113.1:c.-104T>C (PCOTH)	NP_001335042.1:n.-104T>C
NM_001348114.1:c.-104T>C (PCOTH)	NP_001335043.1:n.-104T>C
NM_001014442.4:c.-104T>C (PCOTH)	NP_001014442.2:n.-104T>C
NM_001135816.3:c.5T>C (PCOTH)	NP_001129288.1:p.Leu2Pro
NM_001348112.2:c.5T>C (PCOTH)	NP_001335041.1:p.Leu2Pro
NM_001348113.2:c.-104T>C (PCOTH)	NP_001335042.1:n.-104T>C
NM_001348114.2:c.-104T>C (PCOTH)	NP_001335043.1:n.-104T>C
NR_172510.1:n.226T>C (PCOTH)
NR_172511.1:n.170T>C (PCOTH)
NR_172512.1:n.285T>C (PCOTH)
NR_172513.1:n.170T>C (PCOTH)
NR_172514.1:n.284T>C (PCOTH)
NR_172515.1:n.354T>C (PCOTH)
NR_172516.1:n.354T>C (PCOTH)