Canonical Allele Identifier: CA3022043

Gene: MTTP

Linked Data

• dbSNP Id: rs779359258
• ExAC: 4:100521827 G / A
• gnomAD v2: 4-100521827-G-A
• gnomAD v3: 4-99600670-G-A
• gnomAD v4: 4-99600670-G-A
• MyVariant Identifiers: chr4:g.100521827G>A (hg19) ; chr4:g.99600670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600670G>A , CM000666.2:g.99600670G>A	GRCh38
NC_000004.11:g.100521827G>A , CM000666.1:g.100521827G>A	GRCh37
NC_000004.10:g.100740850G>A	NCBI36
NG_011469.1:g.41588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1173G>A MANE Select	ENSP00000265517.5:p.Glu391=
ENST00000457717.6:c.1173G>A	ENSP00000400821.1:p.Glu391=
ENST00000511045.6:c.924G>A	ENSP00000427679.2:p.Glu308=
ENST00000265517.9:c.1173G>A	ENSP00000265517.5:p.Glu391=
ENST00000457717.5:c.1173G>A	ENSP00000400821.1:p.Glu391=
ENST00000511045.5:c.1254G>A	ENSP00000427679.1:p.Glu418=
ENST00000619629.1:c.1173G>A	ENSP00000482850.1:p.Glu391=
NM_000253.3:c.1173G>A	NP_000244.2:p.Glu391=
NM_001300785.1:c.1254G>A	NP_001287714.1:p.Glu418=
NM_000253.4:c.1173G>A	NP_000244.2:p.Glu391=
NM_001300785.2:c.924G>A	NP_001287714.2:p.Glu308=
NM_001386140.1:c.1173G>A MANE Select	NP_001373069.1:p.Glu391=