Canonical Allele Identifier: CA357505658

Gene: MTTP

Linked Data

• dbSNP Id: rs1578243124
• COSMIC: COSM1662887
• MyVariant Identifiers: chr4:g.100515898T>C (hg19) ; chr4:g.99594741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594741T>C , CM000666.2:g.99594741T>C	GRCh38
NC_000004.11:g.100515898T>C , CM000666.1:g.100515898T>C	GRCh37
NC_000004.10:g.100734921T>C	NCBI36
NG_011469.1:g.35659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.767T>C MANE Select	ENSP00000265517.5:p.Leu256Ser
ENST00000457717.6:c.767T>C	ENSP00000400821.1:p.Leu256Ser
ENST00000511045.6:c.518T>C	ENSP00000427679.2:p.Leu173Ser
ENST00000265517.9:c.767T>C	ENSP00000265517.5:p.Leu256Ser
ENST00000457717.5:c.767T>C	ENSP00000400821.1:p.Leu256Ser
ENST00000511045.5:c.848T>C	ENSP00000427679.1:p.Leu283Ser
ENST00000619629.1:c.767T>C	ENSP00000482850.1:p.Leu256Ser
NM_000253.3:c.767T>C	NP_000244.2:p.Leu256Ser
NM_001300785.1:c.848T>C	NP_001287714.1:p.Leu283Ser
NM_000253.4:c.767T>C	NP_000244.2:p.Leu256Ser
NM_001300785.2:c.518T>C	NP_001287714.2:p.Leu173Ser
NM_001386140.1:c.767T>C MANE Select	NP_001373069.1:p.Leu256Ser