Canonical Allele Identifier: CA357508649

Gene: MTTP

Linked Data

• ClinVar Variation Id: 2827505
• ClinVar RCV Id: RCV003691727
• MyVariant Identifiers: chr4:g.100521874T>C (hg19) ; chr4:g.99600717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600717T>C , CM000666.2:g.99600717T>C	GRCh38
NC_000004.11:g.100521874T>C , CM000666.1:g.100521874T>C	GRCh37
NC_000004.10:g.100740897T>C	NCBI36
NG_011469.1:g.41635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1220T>C MANE Select	ENSP00000265517.5:p.Leu407Pro
ENST00000457717.6:c.1220T>C	ENSP00000400821.1:p.Leu407Pro
ENST00000511045.6:c.971T>C	ENSP00000427679.2:p.Leu324Pro
ENST00000265517.9:c.1220T>C	ENSP00000265517.5:p.Leu407Pro
ENST00000457717.5:c.1220T>C	ENSP00000400821.1:p.Leu407Pro
ENST00000511045.5:c.1301T>C	ENSP00000427679.1:p.Leu434Pro
ENST00000619629.1:c.1220T>C	ENSP00000482850.1:p.Leu407Pro
NM_000253.3:c.1220T>C	NP_000244.2:p.Leu407Pro
NM_001300785.1:c.1301T>C	NP_001287714.1:p.Leu434Pro
NM_000253.4:c.1220T>C	NP_000244.2:p.Leu407Pro
NM_001300785.2:c.971T>C	NP_001287714.2:p.Leu324Pro
NM_001386140.1:c.1220T>C MANE Select	NP_001373069.1:p.Leu407Pro