Canonical Allele Identifier: CA357505725

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100515930T>G (hg19) ; chr4:g.99594773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594773T>G , CM000666.2:g.99594773T>G	GRCh38
NC_000004.11:g.100515930T>G , CM000666.1:g.100515930T>G	GRCh37
NC_000004.10:g.100734953T>G	NCBI36
NG_011469.1:g.35691T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.799T>G MANE Select	ENSP00000265517.5:p.Leu267Val
ENST00000457717.6:c.799T>G	ENSP00000400821.1:p.Leu267Val
ENST00000511045.6:c.550T>G	ENSP00000427679.2:p.Leu184Val
ENST00000265517.9:c.799T>G	ENSP00000265517.5:p.Leu267Val
ENST00000457717.5:c.799T>G	ENSP00000400821.1:p.Leu267Val
ENST00000511045.5:c.880T>G	ENSP00000427679.1:p.Leu294Val
ENST00000619629.1:c.799T>G	ENSP00000482850.1:p.Leu267Val
NM_000253.3:c.799T>G	NP_000244.2:p.Leu267Val
NM_001300785.1:c.880T>G	NP_001287714.1:p.Leu294Val
NM_000253.4:c.799T>G	NP_000244.2:p.Leu267Val
NM_001300785.2:c.550T>G	NP_001287714.2:p.Leu184Val
NM_001386140.1:c.799T>G MANE Select	NP_001373069.1:p.Leu267Val