Canonical Allele Identifier: CA347285964

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 667192
• ClinVar RCV Id: RCV000825865
• dbSNP Id: rs1573030477
• MyVariant Identifiers: chr2:g.73799874T>C (hg19) ; chr2:g.73572747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572747T>C , CM000664.2:g.73572747T>C	GRCh38
NC_000002.11:g.73799874T>C , CM000664.1:g.73799874T>C	GRCh37
NC_000002.10:g.73653382T>C	NCBI36
NG_011690.1:g.191995T>C , LRG_741:g.191995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10489T>C	ENSP00000507671.1:p.Ser3497Pro
ENST00000682801.1:c.10489T>C	ENSP00000507862.1:p.Ser3497Pro
ENST00000682859.1:c.10489T>C	ENSP00000508222.1:p.Ser3497Pro
ENST00000683791.1:c.3575T>C
ENST00000684460.1:c.7770T>C
ENST00000684548.1:c.10489T>C	ENSP00000507421.1:p.Ser3497Pro
ENST00000684590.1:c.4936T>C	ENSP00000507376.1:p.Ser1646Pro
ENST00000684656.1:c.7815T>C
ENST00000613296.6:c.10870T>C MANE Select	ENSP00000482968.1:p.Ser3624Pro
ENST00000651057.1:c.1024T>C	ENSP00000498504.1:p.Ser342Pro
ENST00000651434.1:c.2226T>C
ENST00000651750.1:c.258T>C
ENST00000652487.1:c.1967T>C
ENST00000423048.5:c.4361T>C	ENSP00000399833.1:n.4361T>C
ENST00000484298.5:c.10744T>C	ENSP00000478155.1:p.Ser3582Pro
ENST00000613296.4:c.10870T>C	ENSP00000482968.1:p.Ser3624Pro
ENST00000614410.4:c.10870T>C	ENSP00000479094.1:p.Ser3624Pro
ENST00000620466.4:n.4673T>C
NM_015120.4:c.10873T>C , LRG_741t1:c.10873T>C	NP_055935.4:p.Ser3625Pro
NM_001378454.1:c.10870T>C MANE Select	NP_001365383.1:p.Ser3624Pro