Canonical Allele Identifier: CA292203

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 138280
• ClinVar RCV Id: RCV000126858 ; RCV001775600 ; RCV002055683
• dbSNP Id: rs191816760
• ExAC: 10:30638028 G / A
• gnomAD v2: 10-30638028-G-A
• gnomAD v3: 10-30349099-G-A
• gnomAD v4: 10-30349099-G-A
• MyVariant Identifiers: chr10:g.30638028G>A (hg19) ; chr10:g.30349099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30349099G>A , CM000672.2:g.30349099G>A	GRCh38
NC_000010.10:g.30638028G>A , CM000672.1:g.30638028G>A	GRCh37
NC_000010.9:g.30678034G>A	NCBI36
NG_028096.1:g.5240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.157+20C>T MANE Select	ENSP00000263063.3:n.157+20C>T
ENST00000263063.8:c.157+20C>T	ENSP00000263063.3:n.157+20C>T
ENST00000421701.1:c.43+20C>T	ENSP00000394118.1:n.43+20C>T
ENST00000488290.5:n.1913-7459C>T
NM_018109.3:c.157+20C>T	NP_060579.3:n.157+20C>T
NM_018109.4:c.157+20C>T MANE Select	NP_060579.3:n.157+20C>T