Canonical Allele Identifier: CA440330028

Gene: MTTP

Linked Data

• ClinVar Variation Id: 1147051
• ClinVar RCV Id: RCV001486456
• dbSNP Id: rs2110224664
• MyVariant Identifiers: chr4:g.100521839T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99600682T>C , CM000666.2:g.99600682T>C	GRCh38
NC_000004.11:g.100521839T>C , CM000666.1:g.100521839T>C	GRCh37
NC_000004.10:g.100740862T>C	NCBI36
NG_011469.1:g.41600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265517.10:c.1185T>C MANE Select	ENSP00000265517.5:p.Tyr395=
ENST00000457717.6:c.1185T>C	ENSP00000400821.1:p.Tyr395=
ENST00000511045.6:c.936T>C	ENSP00000427679.2:p.Tyr312=
ENST00000265517.9:c.1185T>C	ENSP00000265517.5:p.Tyr395=
ENST00000457717.5:c.1185T>C	ENSP00000400821.1:p.Tyr395=
ENST00000511045.5:c.1266T>C	ENSP00000427679.1:p.Tyr422=
ENST00000619629.1:c.1185T>C	ENSP00000482850.1:p.Tyr395=
NM_000253.3:c.1185T>C	NP_000244.2:p.Tyr395=
NM_001300785.1:c.1266T>C	NP_001287714.1:p.Tyr422=
NM_000253.4:c.1185T>C	NP_000244.2:p.Tyr395=
NM_001300785.2:c.936T>C	NP_001287714.2:p.Tyr312=
NM_001386140.1:c.1185T>C MANE Select	NP_001373069.1:p.Tyr395=