Canonical Allele Identifier: CA384038689

Gene: MFAP5

Linked Data

• MyVariant Identifiers: chr12:g.8800741G>T (hg19) ; chr12:g.8648145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648145G>T , CM000674.2:g.8648145G>T	GRCh38
NC_000012.11:g.8800741G>T , CM000674.1:g.8800741G>T	GRCh37
NC_000012.10:g.8692008G>T	NCBI36
NG_041814.1:g.19744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.468C>A MANE Select	ENSP00000352455.2:p.Tyr156Ter
ENST00000359478.6:c.468C>A	ENSP00000352455.2:p.Tyr156Ter
ENST00000396549.6:c.438C>A	ENSP00000379798.2:p.Tyr146Ter
ENST00000433590.6:c.393C>A	ENSP00000411997.2:p.Tyr131Ter
ENST00000535336.5:c.276C>A	ENSP00000438525.1:p.Tyr92Ter
ENST00000535411.5:c.437C>A
ENST00000537009.5:c.*120C>A	ENSP00000439289.1:n.*120C>A
ENST00000538694.5:n.427C>A
ENST00000540087.5:c.438C>A	ENSP00000440496.1:p.Tyr146Ter
ENST00000543369.5:c.402C>A	ENSP00000441492.1:p.Tyr134Ter
ENST00000543467.5:c.186C>A	ENSP00000444531.1:p.Tyr62Ter
ENST00000544211.5:c.*120C>A	ENSP00000443839.1:n.*120C>A
NM_001297709.1:c.438C>A	NP_001284638.1:p.Tyr146Ter
NM_001297710.1:c.402C>A	NP_001284639.1:p.Tyr134Ter
NM_001297711.1:c.393C>A	NP_001284640.1:p.Tyr131Ter
NM_001297712.1:c.276C>A	NP_001284641.1:p.Tyr92Ter
NM_003480.3:c.468C>A	NP_003471.1:p.Tyr156Ter
NR_123733.1:n.801C>A
NR_123734.1:n.771C>A
NM_003480.4:c.468C>A MANE Select	NP_003471.1:p.Tyr156Ter
NM_001297709.2:c.438C>A	NP_001284638.1:p.Tyr146Ter
NM_001297710.2:c.402C>A	NP_001284639.1:p.Tyr134Ter
NM_001297711.2:c.393C>A	NP_001284640.1:p.Tyr131Ter
NM_001297712.2:c.276C>A	NP_001284641.1:p.Tyr92Ter
NR_123733.2:n.739C>A
NR_123734.2:n.709C>A