Canonical Allele Identifier: CA357508301

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2121770
• ClinVar RCV Id: RCV003043364
• gnomAD v4: 4-99600654-G-A
• MyVariant Identifiers: chr4:g.100521811G>A (hg19) ; chr4:g.99600654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600654G>A , CM000666.2:g.99600654G>A	GRCh38
NC_000004.11:g.100521811G>A , CM000666.1:g.100521811G>A	GRCh37
NC_000004.10:g.100740834G>A	NCBI36
NG_011469.1:g.41572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1157G>A MANE Select	ENSP00000265517.5:p.Ser386Asn
ENST00000457717.6:c.1157G>A	ENSP00000400821.1:p.Ser386Asn
ENST00000511045.6:c.908G>A	ENSP00000427679.2:p.Ser303Asn
ENST00000265517.9:c.1157G>A	ENSP00000265517.5:p.Ser386Asn
ENST00000457717.5:c.1157G>A	ENSP00000400821.1:p.Ser386Asn
ENST00000511045.5:c.1238G>A	ENSP00000427679.1:p.Ser413Asn
ENST00000619629.1:c.1157G>A	ENSP00000482850.1:p.Ser386Asn
NM_000253.3:c.1157G>A	NP_000244.2:p.Ser386Asn
NM_001300785.1:c.1238G>A	NP_001287714.1:p.Ser413Asn
NM_000253.4:c.1157G>A	NP_000244.2:p.Ser386Asn
NM_001300785.2:c.908G>A	NP_001287714.2:p.Ser303Asn
NM_001386140.1:c.1157G>A MANE Select	NP_001373069.1:p.Ser386Asn