Canonical Allele Identifier: CA5459259

Gene: MTPAP

Linked Data

• ClinVar Variation Id: 378178
• ClinVar RCV Id: RCV000676297 ; RCV000439905
• dbSNP Id: rs139217290
• ExAC: 10:30630578 G / A
• gnomAD v2: 10-30630578-G-A
• gnomAD v3: 10-30341649-G-A
• gnomAD v4: 10-30341649-G-A
• MyVariant Identifiers: chr10:g.30630578G>A (hg19) ; chr10:g.30341649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30341649G>A , CM000672.2:g.30341649G>A	GRCh38
NC_000010.10:g.30630578G>A , CM000672.1:g.30630578G>A	GRCh37
NC_000010.9:g.30670584G>A	NCBI36
NG_028096.1:g.12690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.158-9C>T MANE Select	ENSP00000263063.3:n.158-9C>T
ENST00000263063.8:c.158-9C>T	ENSP00000263063.3:n.158-9C>T
ENST00000417581.1:c.-38-9C>T	ENSP00000404392.1:n.-38-9C>T
ENST00000421701.1:c.44-9C>T	ENSP00000394118.1:n.44-9C>T
ENST00000488290.5:n.1913-9C>T
NM_018109.3:c.158-9C>T	NP_060579.3:n.158-9C>T
NM_018109.4:c.158-9C>T MANE Select	NP_060579.3:n.158-9C>T