Canonical Allele Identifier: CA357502441

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583494-C-G
• MyVariant Identifiers: chr4:g.100504651C>G (hg19) ; chr4:g.99583494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583494C>G , CM000666.2:g.99583494C>G	GRCh38
NC_000004.11:g.100504651C>G , CM000666.1:g.100504651C>G	GRCh37
NC_000004.10:g.100723674C>G	NCBI36
NG_011469.1:g.24412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.370C>G MANE Select	ENSP00000265517.5:p.Leu124Val
ENST00000457717.6:c.370C>G	ENSP00000400821.1:p.Leu124Val
ENST00000511045.6:c.121C>G	ENSP00000427679.2:p.Leu41Val
ENST00000265517.9:c.370C>G	ENSP00000265517.5:p.Leu124Val
ENST00000422897.6:c.370C>G	ENSP00000407350.2:p.Leu124Val
ENST00000457717.5:c.370C>G	ENSP00000400821.1:p.Leu124Val
ENST00000506883.5:c.400C>G	ENSP00000426755.1:p.Leu134Val
ENST00000511045.5:c.451C>G	ENSP00000427679.1:p.Leu151Val
ENST00000619629.1:c.370C>G	ENSP00000482850.1:p.Leu124Val
NM_000253.3:c.370C>G	NP_000244.2:p.Leu124Val
NM_001300785.1:c.451C>G	NP_001287714.1:p.Leu151Val
NM_000253.4:c.370C>G	NP_000244.2:p.Leu124Val
NM_001300785.2:c.121C>G	NP_001287714.2:p.Leu41Val
NM_001386140.1:c.370C>G MANE Select	NP_001373069.1:p.Leu124Val