Canonical Allele Identifier: CA357502530

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583536-T-G
• MyVariant Identifiers: chr4:g.100504693T>G (hg19) ; chr4:g.99583536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583536T>G , CM000666.2:g.99583536T>G	GRCh38
NC_000004.11:g.100504693T>G , CM000666.1:g.100504693T>G	GRCh37
NC_000004.10:g.100723716T>G	NCBI36
NG_011469.1:g.24454T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.393+19T>G MANE Select	ENSP00000265517.5:n.393+19T>G
ENST00000457717.6:c.393+19T>G	ENSP00000400821.1:n.393+19T>G
ENST00000511045.6:c.144+19T>G	ENSP00000427679.2:n.144+19T>G
ENST00000265517.9:c.393+19T>G	ENSP00000265517.5:n.393+19T>G
ENST00000422897.6:c.412T>G	ENSP00000407350.2:p.Ser138Ala
ENST00000457717.5:c.393+19T>G	ENSP00000400821.1:n.393+19T>G
ENST00000506883.5:c.423+19T>G	ENSP00000426755.1:n.423+19T>G
ENST00000511045.5:c.474+19T>G	ENSP00000427679.1:n.474+19T>G
ENST00000619629.1:c.393+19T>G	ENSP00000482850.1:n.393+19T>G
NM_000253.3:c.393+19T>G	NP_000244.2:n.393+19T>G
NM_001300785.1:c.474+19T>G	NP_001287714.1:n.474+19T>G
NM_000253.4:c.393+19T>G	NP_000244.2:n.393+19T>G
NM_001300785.2:c.144+19T>G	NP_001287714.2:n.144+19T>G
NM_001386140.1:c.393+19T>G MANE Select	NP_001373069.1:n.393+19T>G