Canonical Allele Identifier: CA505173530

Gene: TICAM1

Linked Data

• dbSNP Id: rs1400942979
• gnomAD v2: 19-4816281-C-T
• gnomAD v3: 19-4816269-C-T
• gnomAD v4: 19-4816269-C-T
• MyVariant Identifiers: chr19:g.4816281C>T (hg19) ; chr19:g.4816269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816269C>T , CM000681.2:g.4816269C>T	GRCh38
NC_000019.9:g.4816281C>T , CM000681.1:g.4816281C>T	GRCh37
NC_000019.8:g.4767281C>T	NCBI36
NG_031998.1:g.20474G>A , LRG_358:g.20474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2109G>A MANE Select	ENSP00000248244.4:p.Ala703=
ENST00000248244.5:c.2109G>A	ENSP00000248244.4:p.Ala703=
ENST00000621756.1:c.1611G>A	ENSP00000479467.1:p.Ala537=
NM_182919.3:c.2109G>A , LRG_358t1:c.2109G>A	NP_891549.1:p.Ala703=
NM_001385678.1:c.2067G>A	NP_001372607.1:p.Ala689=
NM_001385679.1:c.1974G>A	NP_001372608.1:p.Ala658=
NM_001385680.1:c.1467G>A	NP_001372609.1:p.Ala489=
NM_182919.4:c.2109G>A MANE Select	NP_891549.1:p.Ala703=