Canonical Allele Identifier: CA6913500
Community Standard Title: NM_001007537.3(C1QTNF9B):c.830G>A (p.Arg277Lys)
Gene: C1QTNF9B HGNC NCBI
PCOTH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23891461C>T , CM000675.2:g.23891461C>T GRCh38
NC_000013.10:g.24465600C>T , CM000675.1:g.24465600C>T GRCh37
NC_000013.9:g.23363600C>T NCBI36
NG_052977.1:g.2988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713589.1:c.830G>A (C1QTNF9B) MANE Select ENSP00000518885.1:p.Arg277Lys
NM_001007537.2:c.830G>A (C1QTNF9B) NP_001007538.1:p.Arg277Lys
NM_001014442.2:c.-66C>T (PCOTH) NP_001014442.2:n.-66C>T
NM_001014442.3:c.-66C>T (PCOTH) NP_001014442.2:n.-66C>T
NM_001014442.4:c.-66C>T (PCOTH) NP_001014442.2:n.-66C>T
NM_001135816.1:c.32+11C>T (PCOTH) NP_001129288.1:n.32+11C>T
NM_001135816.2:c.32+11C>T (PCOTH) NP_001129288.1:n.32+11C>T
NM_001135816.3:c.32+11C>T (PCOTH) NP_001129288.1:n.32+11C>T
NM_001348112.1:c.32+11C>T (PCOTH) NP_001335041.1:n.32+11C>T
NM_001348112.2:c.32+11C>T (PCOTH) NP_001335041.1:n.32+11C>T
NM_001348113.1:c.-66C>T (PCOTH) NP_001335042.1:n.-66C>T
NM_001348113.2:c.-66C>T (PCOTH) NP_001335042.1:n.-66C>T
NM_001348114.1:c.-66C>T (PCOTH) NP_001335043.1:n.-66C>T
NM_001348114.2:c.-66C>T (PCOTH) NP_001335043.1:n.-66C>T
NR_104426.1:n.526G>A (C1QTNF9B)
NR_172510.1:n.264C>T (PCOTH)
NR_172511.1:n.197+11C>T (PCOTH)
NR_172512.1:n.312+11C>T (PCOTH)
NR_172513.1:n.208C>T (PCOTH)
NR_172514.1:n.322C>T (PCOTH)
NR_172515.1:n.381+11C>T (PCOTH)
NR_172516.1:n.392C>T (PCOTH)
ENST00000382137.7:c.830G>A (C1QTNF9B) ENSP00000371572.3:p.Arg277Lys
ENST00000382137.8:c.830G>A (C1QTNF9B) ENSP00000371572.3:p.Arg277Lys
ENST00000382140.2:c.830G>A (C1QTNF9B) ENSP00000371575.2:p.Arg277Lys
ENST00000382145.5:c.*16G>A (C1QTNF9B) ENSP00000371580.1:n.*16G>A
ENST00000556521.1:n.517G>A (C1QTNF9B)
XM_011535070.1:c.830G>A (C1QTNF9B) XP_011533372.1:p.Arg277Lys