Canonical Allele Identifier: CA440330560

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100529982G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99608825G>C , CM000666.2:g.99608825G>C	GRCh38
NC_000004.11:g.100529982G>C , CM000666.1:g.100529982G>C	GRCh37
NC_000004.10:g.100749005G>C	NCBI36
NG_011469.1:g.49743G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1617G>C MANE Select	ENSP00000265517.5:p.Val539=
ENST00000457717.6:c.1617G>C	ENSP00000400821.1:p.Val539=
ENST00000511045.6:c.1368G>C	ENSP00000427679.2:p.Val456=
ENST00000265517.9:c.1617G>C	ENSP00000265517.5:p.Val539=
ENST00000457717.5:c.1617G>C	ENSP00000400821.1:p.Val539=
ENST00000511045.5:c.1698G>C	ENSP00000427679.1:p.Val566=
ENST00000619629.1:c.*64G>C	ENSP00000482850.1:n.*64G>C
NM_000253.3:c.1617G>C	NP_000244.2:p.Val539=
NM_001300785.1:c.1698G>C	NP_001287714.1:p.Val566=
NM_000253.4:c.1617G>C	NP_000244.2:p.Val539=
NM_001300785.2:c.1368G>C	NP_001287714.2:p.Val456=
NM_001386140.1:c.1617G>C MANE Select	NP_001373069.1:p.Val539=