Canonical Allele Identifier: CA357508558

Gene: MTTP

Linked Data

• dbSNP Id: rs1725674545
• gnomAD v4: 4-99600696-C-T
• MyVariant Identifiers: chr4:g.100521853C>T (hg19) ; chr4:g.99600696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600696C>T , CM000666.2:g.99600696C>T	GRCh38
NC_000004.11:g.100521853C>T , CM000666.1:g.100521853C>T	GRCh37
NC_000004.10:g.100740876C>T	NCBI36
NG_011469.1:g.41614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1199C>T MANE Select	ENSP00000265517.5:p.Ala400Val
ENST00000457717.6:c.1199C>T	ENSP00000400821.1:p.Ala400Val
ENST00000511045.6:c.950C>T	ENSP00000427679.2:p.Ala317Val
ENST00000265517.9:c.1199C>T	ENSP00000265517.5:p.Ala400Val
ENST00000457717.5:c.1199C>T	ENSP00000400821.1:p.Ala400Val
ENST00000511045.5:c.1280C>T	ENSP00000427679.1:p.Ala427Val
ENST00000619629.1:c.1199C>T	ENSP00000482850.1:p.Ala400Val
NM_000253.3:c.1199C>T	NP_000244.2:p.Ala400Val
NM_001300785.1:c.1280C>T	NP_001287714.1:p.Ala427Val
NM_000253.4:c.1199C>T	NP_000244.2:p.Ala400Val
NM_001300785.2:c.950C>T	NP_001287714.2:p.Ala317Val
NM_001386140.1:c.1199C>T MANE Select	NP_001373069.1:p.Ala400Val