Canonical Allele Identifier: CA347284756

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572558-G-A
• MyVariant Identifiers: chr2:g.73799685G>A (hg19) ; chr2:g.73572558G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572558G>A , CM000664.2:g.73572558G>A	GRCh38
NC_000002.11:g.73799685G>A , CM000664.1:g.73799685G>A	GRCh37
NC_000002.10:g.73653193G>A	NCBI36
NG_011690.1:g.191806G>A , LRG_741:g.191806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10300G>A	ENSP00000507671.1:p.Asp3434Asn
ENST00000682801.1:c.10300G>A	ENSP00000507862.1:p.Asp3434Asn
ENST00000682859.1:c.10300G>A	ENSP00000508222.1:p.Asp3434Asn
ENST00000683791.1:c.3386G>A
ENST00000684460.1:c.7581G>A
ENST00000684548.1:c.10300G>A	ENSP00000507421.1:p.Asp3434Asn
ENST00000684590.1:c.4747G>A	ENSP00000507376.1:p.Asp1583Asn
ENST00000684656.1:c.7626G>A
ENST00000613296.6:c.10681G>A MANE Select	ENSP00000482968.1:p.Asp3561Asn
ENST00000651057.1:c.835G>A	ENSP00000498504.1:p.Asp279Asn
ENST00000651434.1:c.2037G>A
ENST00000651750.1:c.69G>A
ENST00000652487.1:c.1778G>A
ENST00000423048.5:c.4172G>A	ENSP00000399833.1:n.4172G>A
ENST00000484298.5:c.10555G>A	ENSP00000478155.1:p.Asp3519Asn
ENST00000613296.4:c.10681G>A	ENSP00000482968.1:p.Asp3561Asn
ENST00000614410.4:c.10681G>A	ENSP00000479094.1:p.Asp3561Asn
ENST00000620466.4:n.4484G>A
NM_015120.4:c.10684G>A , LRG_741t1:c.10684G>A	NP_055935.4:p.Asp3562Asn
NM_001378454.1:c.10681G>A MANE Select	NP_001365383.1:p.Asp3561Asn