Canonical Allele Identifier: CA347285768

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1459240
• ClinVar RCV Id: RCV001963024
• dbSNP Id: rs756345976
• gnomAD v4: 2-73572711-C-T
• MyVariant Identifiers: chr2:g.73799838C>T (hg19) ; chr2:g.73572711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572711C>T , CM000664.2:g.73572711C>T	GRCh38
NC_000002.11:g.73799838C>T , CM000664.1:g.73799838C>T	GRCh37
NC_000002.10:g.73653346C>T	NCBI36
NG_011690.1:g.191959C>T , LRG_741:g.191959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10453C>T	ENSP00000507671.1:p.Gln3485Ter
ENST00000682801.1:c.10453C>T	ENSP00000507862.1:p.Gln3485Ter
ENST00000682859.1:c.10453C>T	ENSP00000508222.1:p.Gln3485Ter
ENST00000683791.1:c.3539C>T
ENST00000684460.1:c.7734C>T
ENST00000684548.1:c.10453C>T	ENSP00000507421.1:p.Gln3485Ter
ENST00000684590.1:c.4900C>T	ENSP00000507376.1:p.Gln1634Ter
ENST00000684656.1:c.7779C>T
ENST00000613296.6:c.10834C>T MANE Select	ENSP00000482968.1:p.Gln3612Ter
ENST00000651057.1:c.988C>T	ENSP00000498504.1:p.Gln330Ter
ENST00000651434.1:c.2190C>T
ENST00000651750.1:c.222C>T
ENST00000652487.1:c.1931C>T
ENST00000423048.5:c.4325C>T	ENSP00000399833.1:n.4325C>T
ENST00000484298.5:c.10708C>T	ENSP00000478155.1:p.Gln3570Ter
ENST00000613296.4:c.10834C>T	ENSP00000482968.1:p.Gln3612Ter
ENST00000614410.4:c.10834C>T	ENSP00000479094.1:p.Gln3612Ter
ENST00000620466.4:n.4637C>T
NM_015120.4:c.10837C>T , LRG_741t1:c.10837C>T	NP_055935.4:p.Gln3613Ter
NM_001378454.1:c.10834C>T MANE Select	NP_001365383.1:p.Gln3612Ter