Canonical Allele Identifier: CA357508691

Gene: MTTP

Linked Data

• gnomAD v4: 4-99600728-C-G
• MyVariant Identifiers: chr4:g.100521885C>G (hg19) ; chr4:g.99600728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600728C>G , CM000666.2:g.99600728C>G	GRCh38
NC_000004.11:g.100521885C>G , CM000666.1:g.100521885C>G	GRCh37
NC_000004.10:g.100740908C>G	NCBI36
NG_011469.1:g.41646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1231C>G MANE Select	ENSP00000265517.5:p.Leu411Val
ENST00000457717.6:c.1231C>G	ENSP00000400821.1:p.Leu411Val
ENST00000511045.6:c.982C>G	ENSP00000427679.2:p.Leu328Val
ENST00000265517.9:c.1231C>G	ENSP00000265517.5:p.Leu411Val
ENST00000457717.5:c.1231C>G	ENSP00000400821.1:p.Leu411Val
ENST00000511045.5:c.1312C>G	ENSP00000427679.1:p.Leu438Val
ENST00000619629.1:c.1231C>G	ENSP00000482850.1:p.Leu411Val
NM_000253.3:c.1231C>G	NP_000244.2:p.Leu411Val
NM_001300785.1:c.1312C>G	NP_001287714.1:p.Leu438Val
NM_000253.4:c.1231C>G	NP_000244.2:p.Leu411Val
NM_001300785.2:c.982C>G	NP_001287714.2:p.Leu328Val
NM_001386140.1:c.1231C>G MANE Select	NP_001373069.1:p.Leu411Val