Canonical Allele Identifier: CA102627117

Gene: MTTP

Linked Data

• dbSNP Id: rs1042559358
• gnomAD v3: 4-99594662-G-C
• gnomAD v4: 4-99594662-G-C
• MyVariant Identifiers: chr4:g.100515819G>C (hg19) ; chr4:g.99594662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594662G>C , CM000666.2:g.99594662G>C	GRCh38
NC_000004.11:g.100515819G>C , CM000666.1:g.100515819G>C	GRCh37
NC_000004.10:g.100734842G>C	NCBI36
NG_011469.1:g.35580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.759-71G>C MANE Select	ENSP00000265517.5:n.759-71G>C
ENST00000457717.6:c.759-71G>C	ENSP00000400821.1:n.759-71G>C
ENST00000511045.6:c.510-71G>C	ENSP00000427679.2:n.510-71G>C
ENST00000265517.9:c.759-71G>C	ENSP00000265517.5:n.759-71G>C
ENST00000457717.5:c.759-71G>C	ENSP00000400821.1:n.759-71G>C
ENST00000511045.5:c.840-71G>C	ENSP00000427679.1:n.840-71G>C
ENST00000619629.1:c.759-71G>C	ENSP00000482850.1:n.759-71G>C
NM_000253.3:c.759-71G>C	NP_000244.2:n.759-71G>C
NM_001300785.1:c.840-71G>C	NP_001287714.1:n.840-71G>C
NM_000253.4:c.759-71G>C	NP_000244.2:n.759-71G>C
NM_001300785.2:c.510-71G>C	NP_001287714.2:n.510-71G>C
NM_001386140.1:c.759-71G>C MANE Select	NP_001373069.1:n.759-71G>C