Canonical Allele Identifier: CA9105045

Gene: TICAM1

Linked Data

• dbSNP Id: rs773993340
• ExAC: 19:4816506 C / A
• gnomAD v2: 19-4816506-C-A
• gnomAD v4: 19-4816494-C-A
• MyVariant Identifiers: chr19:g.4816506C>A (hg19) ; chr19:g.4816494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816494C>A , CM000681.2:g.4816494C>A	GRCh38
NC_000019.9:g.4816506C>A , CM000681.1:g.4816506C>A	GRCh37
NC_000019.8:g.4767506C>A	NCBI36
NG_031998.1:g.20249G>T , LRG_358:g.20249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1884G>T MANE Select	ENSP00000248244.4:p.Pro628=
ENST00000248244.5:c.1884G>T	ENSP00000248244.4:p.Pro628=
ENST00000621756.1:c.1467G>T	ENSP00000479467.1:p.Pro489=
NM_182919.3:c.1884G>T , LRG_358t1:c.1884G>T	NP_891549.1:p.Pro628=
NM_001385678.1:c.1842G>T	NP_001372607.1:p.Pro614=
NM_001385679.1:c.1749G>T	NP_001372608.1:p.Pro583=
NM_001385680.1:c.1242G>T	NP_001372609.1:p.Pro414=
NM_182919.4:c.1884G>T MANE Select	NP_891549.1:p.Pro628=