Canonical Allele Identifier: CA357502027

Gene: MTTP

Linked Data

• gnomAD v4: 4-99583395-A-C
• MyVariant Identifiers: chr4:g.100504552A>C (hg19) ; chr4:g.99583395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583395A>C , CM000666.2:g.99583395A>C	GRCh38
NC_000004.11:g.100504552A>C , CM000666.1:g.100504552A>C	GRCh37
NC_000004.10:g.100723575A>C	NCBI36
NG_011469.1:g.24313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.271A>C MANE Select	ENSP00000265517.5:p.Asn91His
ENST00000457717.6:c.271A>C	ENSP00000400821.1:p.Asn91His
ENST00000505094.6:c.22A>C	ENSP00000422782.2:p.Asn8His
ENST00000511045.6:c.22A>C	ENSP00000427679.2:p.Asn8His
ENST00000265517.9:c.271A>C	ENSP00000265517.5:p.Asn91His
ENST00000422897.6:c.271A>C	ENSP00000407350.2:p.Asn91His
ENST00000457717.5:c.271A>C	ENSP00000400821.1:p.Asn91His
ENST00000505094.5:c.*361A>C	ENSP00000422782.1:n.*361A>C
ENST00000506883.5:c.301A>C	ENSP00000426755.1:p.Asn101His
ENST00000511045.5:c.352A>C	ENSP00000427679.1:p.Asn118His
ENST00000513404.5:c.*334A>C	ENSP00000424972.1:n.*334A>C
ENST00000515141.5:c.*334A>C	ENSP00000425642.1:n.*334A>C
ENST00000619629.1:c.271A>C	ENSP00000482850.1:p.Asn91His
NM_000253.3:c.271A>C	NP_000244.2:p.Asn91His
NM_001300785.1:c.352A>C	NP_001287714.1:p.Asn118His
NM_000253.4:c.271A>C	NP_000244.2:p.Asn91His
NM_001300785.2:c.22A>C	NP_001287714.2:p.Asn8His
NM_001386140.1:c.271A>C MANE Select	NP_001373069.1:p.Asn91His