Canonical Allele Identifier: CA10638023

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345556G>A , CM000673.2:g.119345556G>A	GRCh38
NC_000011.9:g.119216266G>A , CM000673.1:g.119216266G>A	GRCh37
NC_000011.8:g.118721476G>A	NCBI36
NG_012235.1:g.6118C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.505C>T (MFRP) MANE Select	NP_113621.1:p.His169Tyr
ENST00000619721.6:c.505C>T (MFRP) MANE Select	ENSP00000481824.1:p.His169Tyr
NM_015645.4:c.-2132C>T (C1QTNF5)	NP_056460.1:n.-2132C>T
NM_015645.5:c.-2132C>T (C1QTNF5)	NP_056460.1:n.-2132C>T
NM_031433.3:c.505C>T (MFRP)	NP_113621.1:p.His169Tyr
ENST00000360167.4:c.505C>T (MFRP)	ENSP00000353291.4:p.His169Tyr
ENST00000529147.2:n.468C>T (MFRP)
ENST00000619721.5:c.505C>T (MFRP)	ENSP00000481824.1:p.His169Tyr
ENST00000634542.1:c.*96C>T (MFRP)	ENSP00000488979.1:n.*96C>T