Canonical Allele Identifier: CA403490005

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4817029-G-C
• MyVariant Identifiers: chr19:g.4817041G>C (hg19) ; chr19:g.4817029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817029G>C , CM000681.2:g.4817029G>C	GRCh38
NC_000019.9:g.4817041G>C , CM000681.1:g.4817041G>C	GRCh37
NC_000019.8:g.4768041G>C	NCBI36
NG_031998.1:g.19714C>G , LRG_358:g.19714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1349C>G MANE Select	ENSP00000248244.4:p.Ala450Gly
ENST00000248244.5:c.1349C>G	ENSP00000248244.4:p.Ala450Gly
ENST00000621756.1:c.932C>G	ENSP00000479467.1:p.Ala311Gly
NM_182919.3:c.1349C>G , LRG_358t1:c.1349C>G	NP_891549.1:p.Ala450Gly
NM_001385678.1:c.1307C>G	NP_001372607.1:p.Ala436Gly
NM_001385679.1:c.1214C>G	NP_001372608.1:p.Ala405Gly
NM_001385680.1:c.707C>G	NP_001372609.1:p.Ala236Gly
NM_182919.4:c.1349C>G MANE Select	NP_891549.1:p.Ala450Gly