Canonical Allele Identifier: CA440330531
Gene: MTTP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.100529925G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99608768G>A , CM000666.2:g.99608768G>A GRCh38
NC_000004.11:g.100529925G>A , CM000666.1:g.100529925G>A GRCh37
NC_000004.10:g.100748948G>A NCBI36
NG_011469.1:g.49686G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.1560G>A MANE Select ENSP00000265517.5:p.Val520=
ENST00000457717.6:c.1560G>A ENSP00000400821.1:p.Val520=
ENST00000511045.6:c.1311G>A ENSP00000427679.2:p.Val437=
ENST00000265517.9:c.1560G>A ENSP00000265517.5:p.Val520=
ENST00000457717.5:c.1560G>A ENSP00000400821.1:p.Val520=
ENST00000511045.5:c.1641G>A ENSP00000427679.1:p.Val547=
ENST00000619629.1:c.*7G>A ENSP00000482850.1:n.*7G>A
NM_000253.3:c.1560G>A NP_000244.2:p.Val520=
NM_001300785.1:c.1641G>A NP_001287714.1:p.Val547=
NM_000253.4:c.1560G>A NP_000244.2:p.Val520=
NM_001300785.2:c.1311G>A NP_001287714.2:p.Val437=
NM_001386140.1:c.1560G>A MANE Select NP_001373069.1:p.Val520=