Canonical Allele Identifier: CA376434277

Gene: MTPAP

Linked Data

• MyVariant Identifiers: chr10:g.30602680G>T (hg19) ; chr10:g.30313751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313751G>T , CM000672.2:g.30313751G>T	GRCh38
NC_000010.10:g.30602680G>T , CM000672.1:g.30602680G>T	GRCh37
NC_000010.9:g.30642686G>T	NCBI36
NG_028096.1:g.40588C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263063.9:c.1607C>A MANE Select	ENSP00000263063.3:p.Pro536Gln
ENST00000263063.8:c.1607C>A	ENSP00000263063.3:p.Pro536Gln
ENST00000488290.5:n.3362C>A
NM_018109.3:c.1607C>A	NP_060579.3:p.Pro536Gln
NM_018109.4:c.1607C>A MANE Select	NP_060579.3:p.Pro536Gln