Canonical Allele Identifier: CA505174426

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 1134827
• ClinVar RCV Id: RCV001469906
• dbSNP Id: rs2146168812
• MyVariant Identifiers: chr19:g.4817079C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817067C>T , CM000681.2:g.4817067C>T	GRCh38
NC_000019.9:g.4817079C>T , CM000681.1:g.4817079C>T	GRCh37
NC_000019.8:g.4768079C>T	NCBI36
NG_031998.1:g.19676G>A , LRG_358:g.19676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1311G>A MANE Select	ENSP00000248244.4:p.Gly437=
ENST00000248244.5:c.1311G>A	ENSP00000248244.4:p.Gly437=
ENST00000621756.1:c.894G>A	ENSP00000479467.1:p.Gly298=
NM_182919.3:c.1311G>A , LRG_358t1:c.1311G>A	NP_891549.1:p.Gly437=
NM_001385678.1:c.1269G>A	NP_001372607.1:p.Gly423=
NM_001385679.1:c.1176G>A	NP_001372608.1:p.Gly392=
NM_001385680.1:c.669G>A	NP_001372609.1:p.Gly223=
NM_182919.4:c.1311G>A MANE Select	NP_891549.1:p.Gly437=