Canonical Allele Identifier: CA347266231

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 489198
• ClinVar RCV Id: RCV000578510 ; RCV001219856
• dbSNP Id: rs1553421725
• MyVariant Identifiers: chr2:g.73828440G>A (hg19) ; chr2:g.73601313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601313G>A , CM000664.2:g.73601313G>A	GRCh38
NC_000002.11:g.73828440G>A , CM000664.1:g.73828440G>A	GRCh37
NC_000002.10:g.73681948G>A	NCBI36
NG_011690.1:g.220561G>A , LRG_741:g.220561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11610G>A	ENSP00000507671.1:p.Trp3870Ter
ENST00000682801.1:c.11167-872G>A	ENSP00000507862.1:n.11167-872G>A
ENST00000682859.1:c.11610G>A	ENSP00000508222.1:p.Trp3870Ter
ENST00000683791.1:c.4696G>A
ENST00000684460.1:c.8891G>A
ENST00000684548.1:c.11610G>A	ENSP00000507421.1:p.Trp3870Ter
ENST00000684590.1:c.6057G>A	ENSP00000507376.1:p.Trp2019Ter
ENST00000684656.1:c.9075G>A
ENST00000613296.6:c.11991G>A MANE Select	ENSP00000482968.1:p.Trp3997Ter
ENST00000651057.1:c.2145G>A	ENSP00000498504.1:p.Trp715Ter
ENST00000651434.1:c.3347G>A
ENST00000651750.1:c.1260+432G>A
ENST00000652487.1:c.3162G>A
ENST00000464408.3:n.166G>A
ENST00000484298.5:c.11865G>A	ENSP00000478155.1:p.Trp3955Ter
ENST00000613296.4:c.11991G>A	ENSP00000482968.1:p.Trp3997Ter
ENST00000620466.4:n.5794G>A
NM_015120.4:c.11994G>A , LRG_741t1:c.11994G>A	NP_055935.4:p.Trp3998Ter
NM_001378454.1:c.11991G>A MANE Select	NP_001365383.1:p.Trp3997Ter