Canonical Allele Identifier: CA357520708

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1467387
• ClinVar RCV Id: RCV001993401
• dbSNP Id: rs1194586886
• gnomAD v2: 4-100543970-C-T
• gnomAD v4: 4-99622813-C-T
• MyVariant Identifiers: chr4:g.100543970C>T (hg19) ; chr4:g.99622813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622813C>T , CM000666.2:g.99622813C>T	GRCh38
NC_000004.11:g.100543970C>T , CM000666.1:g.100543970C>T	GRCh37
NC_000004.10:g.100762993C>T	NCBI36
NG_011469.1:g.63731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2650C>T MANE Select	ENSP00000265517.5:p.Pro884Ser
ENST00000457717.6:c.2650C>T	ENSP00000400821.1:p.Pro884Ser
ENST00000511045.6:c.2401C>T	ENSP00000427679.2:p.Pro801Ser
ENST00000265517.9:c.2650C>T	ENSP00000265517.5:p.Pro884Ser
ENST00000457717.5:c.2650C>T	ENSP00000400821.1:p.Pro884Ser
ENST00000511045.5:c.2731C>T	ENSP00000427679.1:p.Pro911Ser
ENST00000619629.1:c.*1097C>T	ENSP00000482850.1:n.*1097C>T
NM_000253.3:c.2650C>T	NP_000244.2:p.Pro884Ser
NM_001300785.1:c.2731C>T	NP_001287714.1:p.Pro911Ser
NM_000253.4:c.2650C>T	NP_000244.2:p.Pro884Ser
NM_001300785.2:c.2401C>T	NP_001287714.2:p.Pro801Ser
NM_001386140.1:c.2650C>T MANE Select	NP_001373069.1:p.Pro884Ser