Canonical Allele Identifier: CA3021953

Gene: MTTP

Linked Data

• ClinVar Variation Id: 347028
• ClinVar RCV Id: RCV000403692 ; RCV000921720
• dbSNP Id: rs7672497
• ExAC: 4:100515930 T / C
• gnomAD v2: 4-100515930-T-C
• gnomAD v3: 4-99594773-T-C
• gnomAD v4: 4-99594773-T-C
• MyVariant Identifiers: chr4:g.100515930T>C (hg19) ; chr4:g.99594773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99594773T>C , CM000666.2:g.99594773T>C	GRCh38
NC_000004.11:g.100515930T>C , CM000666.1:g.100515930T>C	GRCh37
NC_000004.10:g.100734953T>C	NCBI36
NG_011469.1:g.35691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.799T>C MANE Select	ENSP00000265517.5:p.Leu267=
ENST00000457717.6:c.799T>C	ENSP00000400821.1:p.Leu267=
ENST00000511045.6:c.550T>C	ENSP00000427679.2:p.Leu184=
ENST00000265517.9:c.799T>C	ENSP00000265517.5:p.Leu267=
ENST00000457717.5:c.799T>C	ENSP00000400821.1:p.Leu267=
ENST00000511045.5:c.880T>C	ENSP00000427679.1:p.Leu294=
ENST00000619629.1:c.799T>C	ENSP00000482850.1:p.Leu267=
NM_000253.3:c.799T>C	NP_000244.2:p.Leu267=
NM_001300785.1:c.880T>C	NP_001287714.1:p.Leu294=
NM_000253.4:c.799T>C	NP_000244.2:p.Leu267=
NM_001300785.2:c.550T>C	NP_001287714.2:p.Leu184=
NM_001386140.1:c.799T>C MANE Select	NP_001373069.1:p.Leu267=