Canonical Allele Identifier: CA440331344

Gene: MTTP

Linked Data

• dbSNP Id: rs1726165750
• gnomAD v4: 4-99619006-T-C
• MyVariant Identifiers: chr4:g.100540163T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99619006T>C , CM000666.2:g.99619006T>C	GRCh38
NC_000004.11:g.100540163T>C , CM000666.1:g.100540163T>C	GRCh37
NC_000004.10:g.100759186T>C	NCBI36
NG_011469.1:g.59924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.2250T>C MANE Select	ENSP00000265517.5:p.Asn750=
ENST00000457717.6:c.2250T>C	ENSP00000400821.1:p.Asn750=
ENST00000511045.6:c.2001T>C	ENSP00000427679.2:p.Asn667=
ENST00000265517.9:c.2250T>C	ENSP00000265517.5:p.Asn750=
ENST00000457717.5:c.2250T>C	ENSP00000400821.1:p.Asn750=
ENST00000511045.5:c.2331T>C	ENSP00000427679.1:p.Asn777=
ENST00000619629.1:c.*697T>C	ENSP00000482850.1:n.*697T>C
NM_000253.3:c.2250T>C	NP_000244.2:p.Asn750=
NM_001300785.1:c.2331T>C	NP_001287714.1:p.Asn777=
NM_000253.4:c.2250T>C	NP_000244.2:p.Asn750=
NM_001300785.2:c.2001T>C	NP_001287714.2:p.Asn667=
NM_001386140.1:c.2250T>C MANE Select	NP_001373069.1:p.Asn750=