Canonical Allele Identifier: CA3022390

Gene: MTTP

Linked Data

• dbSNP Id: rs767238715
• ExAC: 4:100543815 T / C
• gnomAD v2: 4-100543815-T-C
• gnomAD v3: 4-99622658-T-C
• gnomAD v4: 4-99622658-T-C
• MyVariant Identifiers: chr4:g.100543815T>C (hg19) ; chr4:g.99622658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622658T>C , CM000666.2:g.99622658T>C	GRCh38
NC_000004.11:g.100543815T>C , CM000666.1:g.100543815T>C	GRCh37
NC_000004.10:g.100762838T>C	NCBI36
NG_011469.1:g.63576T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.2514-19T>C MANE Select	ENSP00000265517.5:n.2514-19T>C
ENST00000457717.6:c.2514-19T>C	ENSP00000400821.1:n.2514-19T>C
ENST00000511045.6:c.2265-19T>C	ENSP00000427679.2:n.2265-19T>C
ENST00000265517.9:c.2514-19T>C	ENSP00000265517.5:n.2514-19T>C
ENST00000457717.5:c.2514-19T>C	ENSP00000400821.1:n.2514-19T>C
ENST00000511045.5:c.2595-19T>C	ENSP00000427679.1:n.2595-19T>C
ENST00000619629.1:c.*961-19T>C	ENSP00000482850.1:n.*961-19T>C
NM_000253.3:c.2514-19T>C	NP_000244.2:n.2514-19T>C
NM_001300785.1:c.2595-19T>C	NP_001287714.1:n.2595-19T>C
NM_000253.4:c.2514-19T>C	NP_000244.2:n.2514-19T>C
NM_001300785.2:c.2265-19T>C	NP_001287714.2:n.2265-19T>C
NM_001386140.1:c.2514-19T>C MANE Select	NP_001373069.1:n.2514-19T>C