Canonical Allele Identifier: CA357502306

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583459-G-C
• MyVariant Identifiers: chr4:g.100504616G>C (hg19) ; chr4:g.99583459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583459G>C , CM000666.2:g.99583459G>C	GRCh38
NC_000004.11:g.100504616G>C , CM000666.1:g.100504616G>C	GRCh37
NC_000004.10:g.100723639G>C	NCBI36
NG_011469.1:g.24377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.335G>C MANE Select	ENSP00000265517.5:p.Gly112Ala
ENST00000457717.6:c.335G>C	ENSP00000400821.1:p.Gly112Ala
ENST00000511045.6:c.86G>C	ENSP00000427679.2:p.Gly29Ala
ENST00000265517.9:c.335G>C	ENSP00000265517.5:p.Gly112Ala
ENST00000422897.6:c.335G>C	ENSP00000407350.2:p.Gly112Ala
ENST00000457717.5:c.335G>C	ENSP00000400821.1:p.Gly112Ala
ENST00000506883.5:c.365G>C	ENSP00000426755.1:p.Gly122Ala
ENST00000511045.5:c.416G>C	ENSP00000427679.1:p.Gly139Ala
ENST00000515141.5:c.*398G>C	ENSP00000425642.1:n.*398G>C
ENST00000619629.1:c.335G>C	ENSP00000482850.1:p.Gly112Ala
NM_000253.3:c.335G>C	NP_000244.2:p.Gly112Ala
NM_001300785.1:c.416G>C	NP_001287714.1:p.Gly139Ala
NM_000253.4:c.335G>C	NP_000244.2:p.Gly112Ala
NM_001300785.2:c.86G>C	NP_001287714.2:p.Gly29Ala
NM_001386140.1:c.335G>C MANE Select	NP_001373069.1:p.Gly112Ala