Canonical Allele Identifier: CA403488677

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816520-G-T
• MyVariant Identifiers: chr19:g.4816532G>T (hg19) ; chr19:g.4816520G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816520G>T , CM000681.2:g.4816520G>T	GRCh38
NC_000019.9:g.4816532G>T , CM000681.1:g.4816532G>T	GRCh37
NC_000019.8:g.4767532G>T	NCBI36
NG_031998.1:g.20223C>A , LRG_358:g.20223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1858C>A MANE Select	ENSP00000248244.4:p.Pro620Thr
ENST00000248244.5:c.1858C>A	ENSP00000248244.4:p.Pro620Thr
ENST00000621756.1:c.1441C>A	ENSP00000479467.1:p.Pro481Thr
NM_182919.3:c.1858C>A , LRG_358t1:c.1858C>A	NP_891549.1:p.Pro620Thr
NM_001385678.1:c.1816C>A	NP_001372607.1:p.Pro606Thr
NM_001385679.1:c.1723C>A	NP_001372608.1:p.Pro575Thr
NM_001385680.1:c.1216C>A	NP_001372609.1:p.Pro406Thr
NM_182919.4:c.1858C>A MANE Select	NP_891549.1:p.Pro620Thr