Canonical Allele Identifier: CA5458954

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 447740
• ClinVar RCV Id: RCV000516782 ; RCV004023515
• dbSNP Id: rs370032018
• ExAC: 10:30602894 C / T
• gnomAD v2: 10-30602894-C-T
• gnomAD v3: 10-30313965-C-T
• gnomAD v4: 10-30313965-C-T
• MyVariant Identifiers: chr10:g.30602894C>T (hg19) ; chr10:g.30313965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313965C>T , CM000672.2:g.30313965C>T	GRCh38
NC_000010.10:g.30602894C>T , CM000672.1:g.30602894C>T	GRCh37
NC_000010.9:g.30642900C>T	NCBI36
NG_028096.1:g.40374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.1393G>A MANE Select	ENSP00000263063.3:p.Glu465Lys
ENST00000263063.8:c.1393G>A	ENSP00000263063.3:p.Glu465Lys
ENST00000488290.5:n.3148G>A
NM_018109.3:c.1393G>A	NP_060579.3:p.Glu465Lys
NM_018109.4:c.1393G>A MANE Select	NP_060579.3:p.Glu465Lys