Canonical Allele Identifier: CA403488065

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816285-T-C
• MyVariant Identifiers: chr19:g.4816297T>C (hg19) ; chr19:g.4816285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816285T>C , CM000681.2:g.4816285T>C	GRCh38
NC_000019.9:g.4816297T>C , CM000681.1:g.4816297T>C	GRCh37
NC_000019.8:g.4767297T>C	NCBI36
NG_031998.1:g.20458A>G , LRG_358:g.20458A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2093A>G MANE Select	ENSP00000248244.4:p.Gln698Arg
ENST00000248244.5:c.2093A>G	ENSP00000248244.4:p.Gln698Arg
ENST00000621756.1:c.1595A>G	ENSP00000479467.1:p.Gln532Arg
NM_182919.3:c.2093A>G , LRG_358t1:c.2093A>G	NP_891549.1:p.Gln698Arg
NM_001385678.1:c.2051A>G	NP_001372607.1:p.Gln684Arg
NM_001385679.1:c.1958A>G	NP_001372608.1:p.Gln653Arg
NM_001385680.1:c.1451A>G	NP_001372609.1:p.Gln484Arg
NM_182919.4:c.2093A>G MANE Select	NP_891549.1:p.Gln698Arg