Canonical Allele Identifier: CA2578152343

Gene: MTTP

Linked Data

• gnomAD v4: 4-99600804-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600804G>A , CM000666.2:g.99600804G>A	GRCh38
NC_000004.11:g.100521961G>A , CM000666.1:g.100521961G>A	GRCh37
NC_000004.10:g.100740984G>A	NCBI36
NG_011469.1:g.41722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1236+71G>A MANE Select	ENSP00000265517.5:n.1236+71G>A
ENST00000457717.6:c.1236+71G>A	ENSP00000400821.1:n.1236+71G>A
ENST00000511045.6:c.987+71G>A	ENSP00000427679.2:n.987+71G>A
ENST00000265517.9:c.1236+71G>A	ENSP00000265517.5:n.1236+71G>A
ENST00000457717.5:c.1236+71G>A	ENSP00000400821.1:n.1236+71G>A
ENST00000511045.5:c.1317+71G>A	ENSP00000427679.1:n.1317+71G>A
ENST00000619629.1:c.1236+71G>A	ENSP00000482850.1:n.1236+71G>A
NM_000253.3:c.1236+71G>A	NP_000244.2:n.1236+71G>A
NM_001300785.1:c.1317+71G>A	NP_001287714.1:n.1317+71G>A
NM_000253.4:c.1236+71G>A	NP_000244.2:n.1236+71G>A
NM_001300785.2:c.987+71G>A	NP_001287714.2:n.987+71G>A
NM_001386140.1:c.1236+71G>A MANE Select	NP_001373069.1:n.1236+71G>A