Canonical Allele Identifier: CA347263849

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1444813
• ClinVar RCV Id: RCV001982608
• dbSNP Id: rs1672930739
• MyVariant Identifiers: chr2:g.73716771G>A (hg19) ; chr2:g.73489644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489644G>A , CM000664.2:g.73489644G>A	GRCh38
NC_000002.11:g.73716771G>A , CM000664.1:g.73716771G>A	GRCh37
NC_000002.10:g.73570279G>A	NCBI36
NG_011690.1:g.108892G>A , LRG_741:g.108892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7304G>A	ENSP00000507671.1:p.Ser2435Asn
ENST00000682801.1:c.7304G>A	ENSP00000507862.1:p.Ser2435Asn
ENST00000682859.1:c.7304G>A	ENSP00000508222.1:p.Ser2435Asn
ENST00000683791.1:c.696G>A
ENST00000684460.1:c.4756G>A
ENST00000684548.1:c.7304G>A	ENSP00000507421.1:p.Ser2435Asn
ENST00000684590.1:c.1751G>A	ENSP00000507376.1:p.Ser584Asn
ENST00000684656.1:c.4756G>A
ENST00000613296.6:c.7685G>A MANE Select	ENSP00000482968.1:p.Ser2562Asn
ENST00000651434.1:c.896-30131G>A
ENST00000423048.5:c.2516G>A	ENSP00000399833.1:p.Ser839Asn
ENST00000484298.5:c.7559G>A	ENSP00000478155.1:p.Ser2520Asn
ENST00000613296.4:c.7685G>A	ENSP00000482968.1:p.Ser2562Asn
ENST00000614410.4:c.7685G>A	ENSP00000479094.1:p.Ser2562Asn
ENST00000620466.4:n.1488G>A
NM_015120.4:c.7688G>A , LRG_741t1:c.7688G>A	NP_055935.4:p.Ser2563Asn
NM_001378454.1:c.7685G>A MANE Select	NP_001365383.1:p.Ser2562Asn