Canonical Allele Identifier: CA403490171

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4817064-C-G
• MyVariant Identifiers: chr19:g.4817076C>G (hg19) ; chr19:g.4817064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817064C>G , CM000681.2:g.4817064C>G	GRCh38
NC_000019.9:g.4817076C>G , CM000681.1:g.4817076C>G	GRCh37
NC_000019.8:g.4768076C>G	NCBI36
NG_031998.1:g.19679G>C , LRG_358:g.19679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1314G>C MANE Select	ENSP00000248244.4:p.Glu438Asp
ENST00000248244.5:c.1314G>C	ENSP00000248244.4:p.Glu438Asp
ENST00000621756.1:c.897G>C	ENSP00000479467.1:p.Glu299Asp
NM_182919.3:c.1314G>C , LRG_358t1:c.1314G>C	NP_891549.1:p.Glu438Asp
NM_001385678.1:c.1272G>C	NP_001372607.1:p.Glu424Asp
NM_001385679.1:c.1179G>C	NP_001372608.1:p.Glu393Asp
NM_001385680.1:c.672G>C	NP_001372609.1:p.Glu224Asp
NM_182919.4:c.1314G>C MANE Select	NP_891549.1:p.Glu438Asp