Canonical Allele Identifier: CA382968236

Gene: C1QTNF5 MFRP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339450C>G , CM000673.2:g.119339450C>G	GRCh38
NC_000011.9:g.119210160C>G , CM000673.1:g.119210160C>G	GRCh37
NC_000011.8:g.118715370C>G	NCBI36
NG_012235.1:g.12224G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001278431.2:c.613G>C (C1QTNF5) MANE Select	NP_001265360.1:p.Val205Leu
NM_031433.4:c.*1509G>C (MFRP) MANE Select	NP_113621.1:n.*1509G>C
ENST00000528368.3:c.613G>C (C1QTNF5) MANE Select	ENSP00000431140.1:p.Val205Leu
ENST00000619721.6:c.*1509G>C (MFRP) MANE Select	ENSP00000481824.1:n.*1509G>C
NM_001278431.1:c.613G>C (C1QTNF5)	NP_001265360.1:p.Val205Leu
NM_015645.4:c.613G>C (C1QTNF5)	NP_056460.1:p.Val205Leu
NM_015645.5:c.613G>C (C1QTNF5)	NP_056460.1:p.Val205Leu
NM_031433.3:c.*1509G>C (MFRP)	NP_113621.1:n.*1509G>C
ENST00000525657.2:n.503G>C (C1QTNF5)
ENST00000528368.2:c.613G>C (C1QTNF5)	ENSP00000431140.1:p.Val205Leu
ENST00000530681.2:c.613G>C (C1QTNF5)	ENSP00000456533.2:p.Val205Leu
ENST00000619721.5:c.*1509G>C (MFRP)	ENSP00000481824.1:n.*1509G>C