Canonical Allele Identifier: CA3021954

Gene: MTTP

Linked Data

• ClinVar Variation Id: 839075
• ClinVar RCV Id: RCV001040757 ; RCV001827244
• dbSNP Id: rs146513720
• ExAC: 4:100515934 T / C
• gnomAD v2: 4-100515934-T-C
• gnomAD v3: 4-99594777-T-C
• gnomAD v4: 4-99594777-T-C
• COSMIC: COSM480673
• MyVariant Identifiers: chr4:g.100515934T>C (hg19) ; chr4:g.99594777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594777T>C , CM000666.2:g.99594777T>C	GRCh38
NC_000004.11:g.100515934T>C , CM000666.1:g.100515934T>C	GRCh37
NC_000004.10:g.100734957T>C	NCBI36
NG_011469.1:g.35695T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.803T>C MANE Select	ENSP00000265517.5:p.Met268Thr
ENST00000457717.6:c.803T>C	ENSP00000400821.1:p.Met268Thr
ENST00000511045.6:c.554T>C	ENSP00000427679.2:p.Met185Thr
ENST00000265517.9:c.803T>C	ENSP00000265517.5:p.Met268Thr
ENST00000457717.5:c.803T>C	ENSP00000400821.1:p.Met268Thr
ENST00000511045.5:c.884T>C	ENSP00000427679.1:p.Met295Thr
ENST00000619629.1:c.803T>C	ENSP00000482850.1:p.Met268Thr
NM_000253.3:c.803T>C	NP_000244.2:p.Met268Thr
NM_001300785.1:c.884T>C	NP_001287714.1:p.Met295Thr
NM_000253.4:c.803T>C	NP_000244.2:p.Met268Thr
NM_001300785.2:c.554T>C	NP_001287714.2:p.Met185Thr
NM_001386140.1:c.803T>C MANE Select	NP_001373069.1:p.Met268Thr