Canonical Allele Identifier: CA376434623

Gene: MTPAP

Linked Data

• MyVariant Identifiers: chr10:g.30602784C>A (hg19) ; chr10:g.30313855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313855C>A , CM000672.2:g.30313855C>A	GRCh38
NC_000010.10:g.30602784C>A , CM000672.1:g.30602784C>A	GRCh37
NC_000010.9:g.30642790C>A	NCBI36
NG_028096.1:g.40484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1503G>T MANE Select	ENSP00000263063.3:p.Leu501Phe
ENST00000263063.8:c.1503G>T	ENSP00000263063.3:p.Leu501Phe
ENST00000488290.5:n.3258G>T
NM_018109.3:c.1503G>T	NP_060579.3:p.Leu501Phe
NM_018109.4:c.1503G>T MANE Select	NP_060579.3:p.Leu501Phe