Canonical Allele Identifier: CA2671532885

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583344-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583344T>C , CM000666.2:g.99583344T>C	GRCh38
NC_000004.11:g.100504501T>C , CM000666.1:g.100504501T>C	GRCh37
NC_000004.10:g.100723524T>C	NCBI36
NG_011469.1:g.24262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.250-30T>C MANE Select	ENSP00000265517.5:n.250-30T>C
ENST00000457717.6:c.250-30T>C	ENSP00000400821.1:n.250-30T>C
ENST00000505094.6:c.1-30T>C	ENSP00000422782.2:n.1-30T>C
ENST00000511045.6:c.1-30T>C	ENSP00000427679.2:n.1-30T>C
ENST00000265517.9:c.250-30T>C	ENSP00000265517.5:n.250-30T>C
ENST00000422897.6:c.250-30T>C	ENSP00000407350.2:n.250-30T>C
ENST00000457717.5:c.250-30T>C	ENSP00000400821.1:n.250-30T>C
ENST00000505094.5:c.*340-30T>C	ENSP00000422782.1:n.*340-30T>C
ENST00000506883.5:c.280-30T>C	ENSP00000426755.1:n.280-30T>C
ENST00000511045.5:c.331-30T>C	ENSP00000427679.1:n.331-30T>C
ENST00000513404.5:c.*313-30T>C	ENSP00000424972.1:n.*313-30T>C
ENST00000515141.5:c.*313-30T>C	ENSP00000425642.1:n.*313-30T>C
ENST00000619629.1:c.250-30T>C	ENSP00000482850.1:n.250-30T>C
NM_000253.3:c.250-30T>C	NP_000244.2:n.250-30T>C
NM_001300785.1:c.331-30T>C	NP_001287714.1:n.331-30T>C
NM_000253.4:c.250-30T>C	NP_000244.2:n.250-30T>C
NM_001300785.2:c.1-30T>C	NP_001287714.2:n.1-30T>C
NM_001386140.1:c.250-30T>C MANE Select	NP_001373069.1:n.250-30T>C