Canonical Allele Identifier: CA357508345

Gene: MTTP

Linked Data

• gnomAD v4: 4-99600660-T-C
• MyVariant Identifiers: chr4:g.100521817T>C (hg19) ; chr4:g.99600660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600660T>C , CM000666.2:g.99600660T>C	GRCh38
NC_000004.11:g.100521817T>C , CM000666.1:g.100521817T>C	GRCh37
NC_000004.10:g.100740840T>C	NCBI36
NG_011469.1:g.41578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1163T>C MANE Select	ENSP00000265517.5:p.Ile388Thr
ENST00000457717.6:c.1163T>C	ENSP00000400821.1:p.Ile388Thr
ENST00000511045.6:c.914T>C	ENSP00000427679.2:p.Ile305Thr
ENST00000265517.9:c.1163T>C	ENSP00000265517.5:p.Ile388Thr
ENST00000457717.5:c.1163T>C	ENSP00000400821.1:p.Ile388Thr
ENST00000511045.5:c.1244T>C	ENSP00000427679.1:p.Ile415Thr
ENST00000619629.1:c.1163T>C	ENSP00000482850.1:p.Ile388Thr
NM_000253.3:c.1163T>C	NP_000244.2:p.Ile388Thr
NM_001300785.1:c.1244T>C	NP_001287714.1:p.Ile415Thr
NM_000253.4:c.1163T>C	NP_000244.2:p.Ile388Thr
NM_001300785.2:c.914T>C	NP_001287714.2:p.Ile305Thr
NM_001386140.1:c.1163T>C MANE Select	NP_001373069.1:p.Ile388Thr