Canonical Allele Identifier: CA505174138

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 2649082
• ClinVar RCV Id: RCV003423240
• dbSNP Id: rs566243001
• MyVariant Identifiers: chr19:g.4816536C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816524C>G , CM000681.2:g.4816524C>G	GRCh38
NC_000019.9:g.4816536C>G , CM000681.1:g.4816536C>G	GRCh37
NC_000019.8:g.4767536C>G	NCBI36
NG_031998.1:g.20219G>C , LRG_358:g.20219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1854G>C MANE Select	ENSP00000248244.4:p.Pro618=
ENST00000248244.5:c.1854G>C	ENSP00000248244.4:p.Pro618=
ENST00000621756.1:c.1437G>C	ENSP00000479467.1:p.Pro479=
NM_182919.3:c.1854G>C , LRG_358t1:c.1854G>C	NP_891549.1:p.Pro618=
NM_001385678.1:c.1812G>C	NP_001372607.1:p.Pro604=
NM_001385679.1:c.1719G>C	NP_001372608.1:p.Pro573=
NM_001385680.1:c.1212G>C	NP_001372609.1:p.Pro404=
NM_182919.4:c.1854G>C MANE Select	NP_891549.1:p.Pro618=