Canonical Allele Identifier: CA384038709

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800751C>A (hg19) ; chr12:g.8648155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648155C>A , CM000674.2:g.8648155C>A	GRCh38
NC_000012.11:g.8800751C>A , CM000674.1:g.8800751C>A	GRCh37
NC_000012.10:g.8692018C>A	NCBI36
NG_041814.1:g.19734G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.458G>T MANE Select	ENSP00000352455.2:p.Arg153Leu
ENST00000359478.6:c.458G>T	ENSP00000352455.2:p.Arg153Leu
ENST00000396549.6:c.428G>T	ENSP00000379798.2:p.Arg143Leu
ENST00000433590.6:c.383G>T	ENSP00000411997.2:p.Arg128Leu
ENST00000535336.5:c.266G>T	ENSP00000438525.1:p.Arg89Leu
ENST00000535411.5:c.427G>T
ENST00000537009.5:c.*110G>T	ENSP00000439289.1:n.*110G>T
ENST00000538694.5:n.417G>T
ENST00000540087.5:c.428G>T	ENSP00000440496.1:p.Arg143Leu
ENST00000543369.5:c.392G>T	ENSP00000441492.1:p.Arg131Leu
ENST00000543467.5:c.176G>T	ENSP00000444531.1:p.Arg59Leu
ENST00000544211.5:c.*110G>T	ENSP00000443839.1:n.*110G>T
NM_001297709.1:c.428G>T	NP_001284638.1:p.Arg143Leu
NM_001297710.1:c.392G>T	NP_001284639.1:p.Arg131Leu
NM_001297711.1:c.383G>T	NP_001284640.1:p.Arg128Leu
NM_001297712.1:c.266G>T	NP_001284641.1:p.Arg89Leu
NM_003480.3:c.458G>T	NP_003471.1:p.Arg153Leu
NR_123733.1:n.791G>T
NR_123734.1:n.761G>T
NM_003480.4:c.458G>T MANE Select	NP_003471.1:p.Arg153Leu
NM_001297709.2:c.428G>T	NP_001284638.1:p.Arg143Leu
NM_001297710.2:c.392G>T	NP_001284639.1:p.Arg131Leu
NM_001297711.2:c.383G>T	NP_001284640.1:p.Arg128Leu
NM_001297712.2:c.266G>T	NP_001284641.1:p.Arg89Leu
NR_123733.2:n.729G>T
NR_123734.2:n.699G>T