Canonical Allele Identifier: CA440329184
Gene: MTTP HGNC NCBI

Linked Data

dbSNP Id: rs1560618824
gnomAD v4: 4-99594769-A-G
MyVariant Identifiers: chr4:g.100515926A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99594769A>G , CM000666.2:g.99594769A>G GRCh38
NC_000004.11:g.100515926A>G , CM000666.1:g.100515926A>G GRCh37
NC_000004.10:g.100734949A>G NCBI36
NG_011469.1:g.35687A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.795A>G MANE Select ENSP00000265517.5:p.Pro265=
ENST00000457717.6:c.795A>G ENSP00000400821.1:p.Pro265=
ENST00000511045.6:c.546A>G ENSP00000427679.2:p.Pro182=
ENST00000265517.9:c.795A>G ENSP00000265517.5:p.Pro265=
ENST00000457717.5:c.795A>G ENSP00000400821.1:p.Pro265=
ENST00000511045.5:c.876A>G ENSP00000427679.1:p.Pro292=
ENST00000619629.1:c.795A>G ENSP00000482850.1:p.Pro265=
NM_000253.3:c.795A>G NP_000244.2:p.Pro265=
NM_001300785.1:c.876A>G NP_001287714.1:p.Pro292=
NM_000253.4:c.795A>G NP_000244.2:p.Pro265=
NM_001300785.2:c.546A>G NP_001287714.2:p.Pro182=
NM_001386140.1:c.795A>G MANE Select NP_001373069.1:p.Pro265=