Canonical Allele Identifier: CA440328616

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1652734
• ClinVar RCV Id: RCV002173857
• dbSNP Id: rs2110212696
• gnomAD v4: 4-99583445-A-G
• MyVariant Identifiers: chr4:g.100504602A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583445A>G , CM000666.2:g.99583445A>G	GRCh38
NC_000004.11:g.100504602A>G , CM000666.1:g.100504602A>G	GRCh37
NC_000004.10:g.100723625A>G	NCBI36
NG_011469.1:g.24363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.321A>G MANE Select	ENSP00000265517.5:p.Pro107=
ENST00000457717.6:c.321A>G	ENSP00000400821.1:p.Pro107=
ENST00000511045.6:c.72A>G	ENSP00000427679.2:p.Pro24=
ENST00000265517.9:c.321A>G	ENSP00000265517.5:p.Pro107=
ENST00000422897.6:c.321A>G	ENSP00000407350.2:p.Pro107=
ENST00000457717.5:c.321A>G	ENSP00000400821.1:p.Pro107=
ENST00000506883.5:c.351A>G	ENSP00000426755.1:p.Pro117=
ENST00000511045.5:c.402A>G	ENSP00000427679.1:p.Pro134=
ENST00000515141.5:c.*384A>G	ENSP00000425642.1:n.*384A>G
ENST00000619629.1:c.321A>G	ENSP00000482850.1:p.Pro107=
NM_000253.3:c.321A>G	NP_000244.2:p.Pro107=
NM_001300785.1:c.402A>G	NP_001287714.1:p.Pro134=
NM_000253.4:c.321A>G	NP_000244.2:p.Pro107=
NM_001300785.2:c.72A>G	NP_001287714.2:p.Pro24=
NM_001386140.1:c.321A>G MANE Select	NP_001373069.1:p.Pro107=