Canonical Allele Identifier: CA3022047
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 2193516
ClinVar RCV Id: RCV002623981
dbSNP Id: rs150671886
gnomAD v3: 4-99600708-A-G
gnomAD v4: 4-99600708-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600708A>G , CM000666.2:g.99600708A>G GRCh38
NC_000004.11:g.100521865A>G , CM000666.1:g.100521865A>G GRCh37
NC_000004.10:g.100740888A>G NCBI36
NG_011469.1:g.41626A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1211A>G MANE Select ENSP00000265517.5:p.Asn404Ser
ENST00000457717.6:c.1211A>G ENSP00000400821.1:p.Asn404Ser
ENST00000511045.6:c.962A>G ENSP00000427679.2:p.Asn321Ser
ENST00000265517.9:c.1211A>G ENSP00000265517.5:p.Asn404Ser
ENST00000457717.5:c.1211A>G ENSP00000400821.1:p.Asn404Ser
ENST00000511045.5:c.1292A>G ENSP00000427679.1:p.Asn431Ser
ENST00000619629.1:c.1211A>G ENSP00000482850.1:p.Asn404Ser
NM_000253.3:c.1211A>G NP_000244.2:p.Asn404Ser
NM_001300785.1:c.1292A>G NP_001287714.1:p.Asn431Ser
NM_000253.4:c.1211A>G NP_000244.2:p.Asn404Ser
NM_001300785.2:c.962A>G NP_001287714.2:p.Asn321Ser
NM_001386140.1:c.1211A>G MANE Select NP_001373069.1:p.Asn404Ser