Canonical Allele Identifier: CA403488324

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816343-G-T
• MyVariant Identifiers: chr19:g.4816355G>T (hg19) ; chr19:g.4816343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816343G>T , CM000681.2:g.4816343G>T	GRCh38
NC_000019.9:g.4816355G>T , CM000681.1:g.4816355G>T	GRCh37
NC_000019.8:g.4767355G>T	NCBI36
NG_031998.1:g.20400C>A , LRG_358:g.20400C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2035C>A MANE Select	ENSP00000248244.4:p.Leu679Ile
ENST00000248244.5:c.2035C>A	ENSP00000248244.4:p.Leu679Ile
ENST00000621756.1:c.1537C>A	ENSP00000479467.1:p.Leu513Ile
NM_182919.3:c.2035C>A , LRG_358t1:c.2035C>A	NP_891549.1:p.Leu679Ile
NM_001385678.1:c.1993C>A	NP_001372607.1:p.Leu665Ile
NM_001385679.1:c.1900C>A	NP_001372608.1:p.Leu634Ile
NM_001385680.1:c.1393C>A	NP_001372609.1:p.Leu465Ile
NM_182919.4:c.2035C>A MANE Select	NP_891549.1:p.Leu679Ile