Canonical Allele Identifier: CA440333271

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622803-G-T
• MyVariant Identifiers: chr4:g.100543960G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622803G>T , CM000666.2:g.99622803G>T	GRCh38
NC_000004.11:g.100543960G>T , CM000666.1:g.100543960G>T	GRCh37
NC_000004.10:g.100762983G>T	NCBI36
NG_011469.1:g.63721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2640G>T MANE Select	ENSP00000265517.5:p.Val880=
ENST00000457717.6:c.2640G>T	ENSP00000400821.1:p.Val880=
ENST00000511045.6:c.2391G>T	ENSP00000427679.2:p.Val797=
ENST00000265517.9:c.2640G>T	ENSP00000265517.5:p.Val880=
ENST00000457717.5:c.2640G>T	ENSP00000400821.1:p.Val880=
ENST00000511045.5:c.2721G>T	ENSP00000427679.1:p.Val907=
ENST00000619629.1:c.*1087G>T	ENSP00000482850.1:n.*1087G>T
NM_000253.3:c.2640G>T	NP_000244.2:p.Val880=
NM_001300785.1:c.2721G>T	NP_001287714.1:p.Val907=
NM_000253.4:c.2640G>T	NP_000244.2:p.Val880=
NM_001300785.2:c.2391G>T	NP_001287714.2:p.Val797=
NM_001386140.1:c.2640G>T MANE Select	NP_001373069.1:p.Val880=