Canonical Allele Identifier: CA357502004

Gene: MTTP

Linked Data

• MyVariant Identifiers: chr4:g.100504546G>C (hg19) ; chr4:g.99583389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583389G>C , CM000666.2:g.99583389G>C	GRCh38
NC_000004.11:g.100504546G>C , CM000666.1:g.100504546G>C	GRCh37
NC_000004.10:g.100723569G>C	NCBI36
NG_011469.1:g.24307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.265G>C MANE Select	ENSP00000265517.5:p.Val89Leu
ENST00000457717.6:c.265G>C	ENSP00000400821.1:p.Val89Leu
ENST00000505094.6:c.16G>C	ENSP00000422782.2:p.Val6Leu
ENST00000511045.6:c.16G>C	ENSP00000427679.2:p.Val6Leu
ENST00000265517.9:c.265G>C	ENSP00000265517.5:p.Val89Leu
ENST00000422897.6:c.265G>C	ENSP00000407350.2:p.Val89Leu
ENST00000457717.5:c.265G>C	ENSP00000400821.1:p.Val89Leu
ENST00000505094.5:c.*355G>C	ENSP00000422782.1:n.*355G>C
ENST00000506883.5:c.295G>C	ENSP00000426755.1:p.Val99Leu
ENST00000511045.5:c.346G>C	ENSP00000427679.1:p.Val116Leu
ENST00000513404.5:c.*328G>C	ENSP00000424972.1:n.*328G>C
ENST00000515141.5:c.*328G>C	ENSP00000425642.1:n.*328G>C
ENST00000619629.1:c.265G>C	ENSP00000482850.1:p.Val89Leu
NM_000253.3:c.265G>C	NP_000244.2:p.Val89Leu
NM_001300785.1:c.346G>C	NP_001287714.1:p.Val116Leu
NM_000253.4:c.265G>C	NP_000244.2:p.Val89Leu
NM_001300785.2:c.16G>C	NP_001287714.2:p.Val6Leu
NM_001386140.1:c.265G>C MANE Select	NP_001373069.1:p.Val89Leu