Canonical Allele Identifier: CA477155663

Gene: MFRP C1QTNF5

Linked Data

• MyVariant Identifiers: chr11:g.119215049G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344339G>A , CM000673.2:g.119344339G>A	GRCh38
NC_000011.9:g.119215049G>A , CM000673.1:g.119215049G>A	GRCh37
NC_000011.8:g.118720259G>A	NCBI36
NG_012235.1:g.7335C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.951C>T (MFRP) MANE Select	ENSP00000481824.1:p.Tyr317=
ENST00000360167.4:c.898+293C>T (MFRP)	ENSP00000353291.4:n.898+293C>T
ENST00000619721.5:c.951C>T (MFRP)	ENSP00000481824.1:p.Tyr317=
NM_015645.4:c.-1686C>T (C1QTNF5)	NP_056460.1:n.-1686C>T
NM_031433.3:c.951C>T (MFRP)	NP_113621.1:p.Tyr317=
NM_031433.4:c.951C>T (MFRP) MANE Select	NP_113621.1:p.Tyr317=
NM_015645.5:c.-1686C>T (C1QTNF5)	NP_056460.1:n.-1686C>T