Canonical Allele Identifier: CA1065946500

Gene: MTTP

Linked Data

• dbSNP Id: rs1725678775
• gnomAD v3: 4-99600833-C-T
• gnomAD v4: 4-99600833-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600833C>T , CM000666.2:g.99600833C>T	GRCh38
NC_000004.11:g.100521990C>T , CM000666.1:g.100521990C>T	GRCh37
NC_000004.10:g.100741013C>T	NCBI36
NG_011469.1:g.41751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1236+100C>T MANE Select	ENSP00000265517.5:n.1236+100C>T
ENST00000457717.6:c.1236+100C>T	ENSP00000400821.1:n.1236+100C>T
ENST00000511045.6:c.987+100C>T	ENSP00000427679.2:n.987+100C>T
ENST00000265517.9:c.1236+100C>T	ENSP00000265517.5:n.1236+100C>T
ENST00000457717.5:c.1236+100C>T	ENSP00000400821.1:n.1236+100C>T
ENST00000511045.5:c.1317+100C>T	ENSP00000427679.1:n.1317+100C>T
ENST00000619629.1:c.1236+100C>T	ENSP00000482850.1:n.1236+100C>T
NM_000253.3:c.1236+100C>T	NP_000244.2:n.1236+100C>T
NM_001300785.1:c.1317+100C>T	NP_001287714.1:n.1317+100C>T
NM_000253.4:c.1236+100C>T	NP_000244.2:n.1236+100C>T
NM_001300785.2:c.987+100C>T	NP_001287714.2:n.987+100C>T
NM_001386140.1:c.1236+100C>T MANE Select	NP_001373069.1:n.1236+100C>T