Canonical Allele Identifier: CA357502144

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504580G>C (hg19) ; chr4:g.99583423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583423G>C , CM000666.2:g.99583423G>C	GRCh38
NC_000004.11:g.100504580G>C , CM000666.1:g.100504580G>C	GRCh37
NC_000004.10:g.100723603G>C	NCBI36
NG_011469.1:g.24341G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.299G>C MANE Select	ENSP00000265517.5:p.Ser100Thr
ENST00000457717.6:c.299G>C	ENSP00000400821.1:p.Ser100Thr
ENST00000511045.6:c.50G>C	ENSP00000427679.2:p.Ser17Thr
ENST00000265517.9:c.299G>C	ENSP00000265517.5:p.Ser100Thr
ENST00000422897.6:c.299G>C	ENSP00000407350.2:p.Ser100Thr
ENST00000457717.5:c.299G>C	ENSP00000400821.1:p.Ser100Thr
ENST00000506883.5:c.329G>C	ENSP00000426755.1:p.Ser110Thr
ENST00000511045.5:c.380G>C	ENSP00000427679.1:p.Ser127Thr
ENST00000515141.5:c.*362G>C	ENSP00000425642.1:n.*362G>C
ENST00000619629.1:c.299G>C	ENSP00000482850.1:p.Ser100Thr
NM_000253.3:c.299G>C	NP_000244.2:p.Ser100Thr
NM_001300785.1:c.380G>C	NP_001287714.1:p.Ser127Thr
NM_000253.4:c.299G>C	NP_000244.2:p.Ser100Thr
NM_001300785.2:c.50G>C	NP_001287714.2:p.Ser17Thr
NM_001386140.1:c.299G>C MANE Select	NP_001373069.1:p.Ser100Thr