Canonical Allele Identifier: CA3022337

Gene: MTTP

Linked Data

• dbSNP Id: rs747438949
• ExAC: 4:100540261 T / TACA
• MyVariant Identifiers: chr4:g.100540261_100540262insACA (hg19) ; chr4:g.99619104_99619105insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99619104_99619105insACA , CM000666.2:g.99619104_99619105insACA	GRCh38
NC_000004.11:g.100540261_100540262insACA , CM000666.1:g.100540261_100540262insACA	GRCh37
NC_000004.10:g.100759284_100759285insACA	NCBI36
NG_011469.1:g.60022_60023insACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.2342+6_2342+7insACA MANE Select	ENSP00000265517.5:n.2342+6_2342+7insACA
ENST00000457717.6:c.2342+6_2342+7insACA	ENSP00000400821.1:n.2342+6_2342+7insACA
ENST00000511045.6:c.2093+6_2093+7insACA	ENSP00000427679.2:n.2093+6_2093+7insACA
ENST00000265517.9:c.2342+6_2342+7insACA	ENSP00000265517.5:n.2342+6_2342+7insACA
ENST00000457717.5:c.2342+6_2342+7insACA	ENSP00000400821.1:n.2342+6_2342+7insACA
ENST00000511045.5:c.2423+6_2423+7insACA	ENSP00000427679.1:n.2423+6_2423+7insACA
ENST00000619629.1:c.*789+6_*789+7insACA	ENSP00000482850.1:n.*789+6_*789+7insACA
NM_000253.3:c.2342+6_2342+7insACA	NP_000244.2:n.2342+6_2342+7insACA
NM_001300785.1:c.2423+6_2423+7insACA	NP_001287714.1:n.2423+6_2423+7insACA
NM_000253.4:c.2342+6_2342+7insACA	NP_000244.2:n.2342+6_2342+7insACA
NM_001300785.2:c.2093+6_2093+7insACA	NP_001287714.2:n.2093+6_2093+7insACA
NM_001386140.1:c.2342+6_2342+7insACA MANE Select	NP_001373069.1:n.2342+6_2342+7insACA