Canonical Allele Identifier: CA403488558

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816463-C-T
• MyVariant Identifiers: chr19:g.4816475C>T (hg19) ; chr19:g.4816463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816463C>T , CM000681.2:g.4816463C>T	GRCh38
NC_000019.9:g.4816475C>T , CM000681.1:g.4816475C>T	GRCh37
NC_000019.8:g.4767475C>T	NCBI36
NG_031998.1:g.20280G>A , LRG_358:g.20280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1915G>A MANE Select	ENSP00000248244.4:p.Gly639Ser
ENST00000248244.5:c.1915G>A	ENSP00000248244.4:p.Gly639Ser
ENST00000621756.1:c.1479+19G>A	ENSP00000479467.1:n.1479+19G>A
NM_182919.3:c.1915G>A , LRG_358t1:c.1915G>A	NP_891549.1:p.Gly639Ser
NM_001385678.1:c.1873G>A	NP_001372607.1:p.Gly625Ser
NM_001385679.1:c.1780G>A	NP_001372608.1:p.Gly594Ser
NM_001385680.1:c.1273G>A	NP_001372609.1:p.Gly425Ser
NM_182919.4:c.1915G>A MANE Select	NP_891549.1:p.Gly639Ser