Canonical Allele Identifier: CA357508589

Gene: MTTP

Linked Data

• dbSNP Id: rs1304503359
• gnomAD v3: 4-99600704-C-A
• gnomAD v4: 4-99600704-C-A
• MyVariant Identifiers: chr4:g.100521861C>A (hg19) ; chr4:g.99600704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600704C>A , CM000666.2:g.99600704C>A	GRCh38
NC_000004.11:g.100521861C>A , CM000666.1:g.100521861C>A	GRCh37
NC_000004.10:g.100740884C>A	NCBI36
NG_011469.1:g.41622C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1207C>A MANE Select	ENSP00000265517.5:p.Pro403Thr
ENST00000457717.6:c.1207C>A	ENSP00000400821.1:p.Pro403Thr
ENST00000511045.6:c.958C>A	ENSP00000427679.2:p.Pro320Thr
ENST00000265517.9:c.1207C>A	ENSP00000265517.5:p.Pro403Thr
ENST00000457717.5:c.1207C>A	ENSP00000400821.1:p.Pro403Thr
ENST00000511045.5:c.1288C>A	ENSP00000427679.1:p.Pro430Thr
ENST00000619629.1:c.1207C>A	ENSP00000482850.1:p.Pro403Thr
NM_000253.3:c.1207C>A	NP_000244.2:p.Pro403Thr
NM_001300785.1:c.1288C>A	NP_001287714.1:p.Pro430Thr
NM_000253.4:c.1207C>A	NP_000244.2:p.Pro403Thr
NM_001300785.2:c.958C>A	NP_001287714.2:p.Pro320Thr
NM_001386140.1:c.1207C>A MANE Select	NP_001373069.1:p.Pro403Thr