Canonical Allele Identifier: CA2671535519

Gene: MTTP

Linked Data

• gnomAD v4: 4-99622612-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622612G>C , CM000666.2:g.99622612G>C	GRCh38
NC_000004.11:g.100543769G>C , CM000666.1:g.100543769G>C	GRCh37
NC_000004.10:g.100762792G>C	NCBI36
NG_011469.1:g.63530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2514-65G>C MANE Select	ENSP00000265517.5:n.2514-65G>C
ENST00000457717.6:c.2514-65G>C	ENSP00000400821.1:n.2514-65G>C
ENST00000511045.6:c.2265-65G>C	ENSP00000427679.2:n.2265-65G>C
ENST00000265517.9:c.2514-65G>C	ENSP00000265517.5:n.2514-65G>C
ENST00000457717.5:c.2514-65G>C	ENSP00000400821.1:n.2514-65G>C
ENST00000511045.5:c.2595-65G>C	ENSP00000427679.1:n.2595-65G>C
ENST00000619629.1:c.*961-65G>C	ENSP00000482850.1:n.*961-65G>C
NM_000253.3:c.2514-65G>C	NP_000244.2:n.2514-65G>C
NM_001300785.1:c.2595-65G>C	NP_001287714.1:n.2595-65G>C
NM_000253.4:c.2514-65G>C	NP_000244.2:n.2514-65G>C
NM_001300785.2:c.2265-65G>C	NP_001287714.2:n.2265-65G>C
NM_001386140.1:c.2514-65G>C MANE Select	NP_001373069.1:n.2514-65G>C