Canonical Allele Identifier: CA376434645

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 3217330
• ClinVar RCV Id: RCV004507172
• gnomAD v4: 10-30313865-A-C
• COSMIC: COSM917611 ; COSM917612
• MyVariant Identifiers: chr10:g.30602794A>C (hg19) ; chr10:g.30313865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313865A>C , CM000672.2:g.30313865A>C	GRCh38
NC_000010.10:g.30602794A>C , CM000672.1:g.30602794A>C	GRCh37
NC_000010.9:g.30642800A>C	NCBI36
NG_028096.1:g.40474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1493T>G MANE Select	ENSP00000263063.3:p.Phe498Cys
ENST00000263063.8:c.1493T>G	ENSP00000263063.3:p.Phe498Cys
ENST00000488290.5:n.3248T>G
NM_018109.3:c.1493T>G	NP_060579.3:p.Phe498Cys
NM_018109.4:c.1493T>G MANE Select	NP_060579.3:p.Phe498Cys