Canonical Allele Identifier: CA9105024

Gene: TICAM1

Linked Data

• dbSNP Id: rs148396522
• ExAC: 19:4816417 G / C
• gnomAD v2: 19-4816417-G-C
• gnomAD v4: 19-4816405-G-C
• MyVariant Identifiers: chr19:g.4816417G>C (hg19) ; chr19:g.4816405G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816405G>C , CM000681.2:g.4816405G>C	GRCh38
NC_000019.9:g.4816417G>C , CM000681.1:g.4816417G>C	GRCh37
NC_000019.8:g.4767417G>C	NCBI36
NG_031998.1:g.20338C>G , LRG_358:g.20338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1973C>G MANE Select	ENSP00000248244.4:p.Pro658Arg
ENST00000248244.5:c.1973C>G	ENSP00000248244.4:p.Pro658Arg
ENST00000621756.1:c.1480-5C>G	ENSP00000479467.1:n.1480-5C>G
NM_182919.3:c.1973C>G , LRG_358t1:c.1973C>G	NP_891549.1:p.Pro658Arg
NM_001385678.1:c.1931C>G	NP_001372607.1:p.Pro644Arg
NM_001385679.1:c.1838C>G	NP_001372608.1:p.Pro613Arg
NM_001385680.1:c.1331C>G	NP_001372609.1:p.Pro444Arg
NM_182919.4:c.1973C>G MANE Select	NP_891549.1:p.Pro658Arg