Canonical Allele Identifier: CA357502490

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504674G>C (hg19) ; chr4:g.99583517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583517G>C , CM000666.2:g.99583517G>C	GRCh38
NC_000004.11:g.100504674G>C , CM000666.1:g.100504674G>C	GRCh37
NC_000004.10:g.100723697G>C	NCBI36
NG_011469.1:g.24435G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.393G>C MANE Select	ENSP00000265517.5:p.Lys131Asn
ENST00000457717.6:c.393G>C	ENSP00000400821.1:p.Lys131Asn
ENST00000511045.6:c.144G>C	ENSP00000427679.2:p.Lys48Asn
ENST00000265517.9:c.393G>C	ENSP00000265517.5:p.Lys131Asn
ENST00000422897.6:c.393G>C	ENSP00000407350.2:p.Lys131Asn
ENST00000457717.5:c.393G>C	ENSP00000400821.1:p.Lys131Asn
ENST00000506883.5:c.423G>C	ENSP00000426755.1:p.Lys141Asn
ENST00000511045.5:c.474G>C	ENSP00000427679.1:p.Lys158Asn
ENST00000619629.1:c.393G>C	ENSP00000482850.1:p.Lys131Asn
NM_000253.3:c.393G>C	NP_000244.2:p.Lys131Asn
NM_001300785.1:c.474G>C	NP_001287714.1:p.Lys158Asn
NM_000253.4:c.393G>C	NP_000244.2:p.Lys131Asn
NM_001300785.2:c.144G>C	NP_001287714.2:p.Lys48Asn
NM_001386140.1:c.393G>C MANE Select	NP_001373069.1:p.Lys131Asn