Canonical Allele Identifier: CA3021810

Gene: MTTP

Linked Data

• ClinVar Variation Id: 596484
• ClinVar RCV Id: RCV000732342 ; RCV001830621
• dbSNP Id: rs754693915
• ExAC: 4:100504649 C / T
• gnomAD v2: 4-100504649-C-T
• gnomAD v3: 4-99583492-C-T
• gnomAD v4: 4-99583492-C-T
• COSMIC: COSM4772116
• MyVariant Identifiers: chr4:g.100504649C>T (hg19) ; chr4:g.99583492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583492C>T , CM000666.2:g.99583492C>T	GRCh38
NC_000004.11:g.100504649C>T , CM000666.1:g.100504649C>T	GRCh37
NC_000004.10:g.100723672C>T	NCBI36
NG_011469.1:g.24410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.368C>T MANE Select	ENSP00000265517.5:p.Thr123Met
ENST00000457717.6:c.368C>T	ENSP00000400821.1:p.Thr123Met
ENST00000511045.6:c.119C>T	ENSP00000427679.2:p.Thr40Met
ENST00000265517.9:c.368C>T	ENSP00000265517.5:p.Thr123Met
ENST00000422897.6:c.368C>T	ENSP00000407350.2:p.Thr123Met
ENST00000457717.5:c.368C>T	ENSP00000400821.1:p.Thr123Met
ENST00000506883.5:c.398C>T	ENSP00000426755.1:p.Thr133Met
ENST00000511045.5:c.449C>T	ENSP00000427679.1:p.Thr150Met
ENST00000619629.1:c.368C>T	ENSP00000482850.1:p.Thr123Met
NM_000253.3:c.368C>T	NP_000244.2:p.Thr123Met
NM_001300785.1:c.449C>T	NP_001287714.1:p.Thr150Met
NM_000253.4:c.368C>T	NP_000244.2:p.Thr123Met
NM_001300785.2:c.119C>T	NP_001287714.2:p.Thr40Met
NM_001386140.1:c.368C>T MANE Select	NP_001373069.1:p.Thr123Met