Canonical Allele Identifier: CA357520175

Gene: MTTP

Linked Data

• dbSNP Id: rs1726267413
• gnomAD v3: 4-99622692-G-C
• gnomAD v4: 4-99622692-G-C
• MyVariant Identifiers: chr4:g.100543849G>C (hg19) ; chr4:g.99622692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99622692G>C , CM000666.2:g.99622692G>C	GRCh38
NC_000004.11:g.100543849G>C , CM000666.1:g.100543849G>C	GRCh37
NC_000004.10:g.100762872G>C	NCBI36
NG_011469.1:g.63610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.2529G>C MANE Select	ENSP00000265517.5:p.Lys843Asn
ENST00000457717.6:c.2529G>C	ENSP00000400821.1:p.Lys843Asn
ENST00000511045.6:c.2280G>C	ENSP00000427679.2:p.Lys760Asn
ENST00000265517.9:c.2529G>C	ENSP00000265517.5:p.Lys843Asn
ENST00000457717.5:c.2529G>C	ENSP00000400821.1:p.Lys843Asn
ENST00000511045.5:c.2610G>C	ENSP00000427679.1:p.Lys870Asn
ENST00000619629.1:c.*976G>C	ENSP00000482850.1:n.*976G>C
NM_000253.3:c.2529G>C	NP_000244.2:p.Lys843Asn
NM_001300785.1:c.2610G>C	NP_001287714.1:p.Lys870Asn
NM_000253.4:c.2529G>C	NP_000244.2:p.Lys843Asn
NM_001300785.2:c.2280G>C	NP_001287714.2:p.Lys760Asn
NM_001386140.1:c.2529G>C MANE Select	NP_001373069.1:p.Lys843Asn