Canonical Allele Identifier: CA533678810

Gene: ALMS1

Linked Data

• dbSNP Id: rs1312515026
• gnomAD v2: 2-73799327-G-A
• gnomAD v3: 2-73572200-G-A
• gnomAD v4: 2-73572200-G-A
• MyVariant Identifiers: chr2:g.73799327G>A (hg19) ; chr2:g.73572200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572200G>A , CM000664.2:g.73572200G>A	GRCh38
NC_000002.11:g.73799327G>A , CM000664.1:g.73799327G>A	GRCh37
NC_000002.10:g.73652835G>A	NCBI36
NG_011690.1:g.191448G>A , LRG_741:g.191448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-62G>A	ENSP00000507671.1:n.10004-62G>A
ENST00000682801.1:c.10004-62G>A	ENSP00000507862.1:n.10004-62G>A
ENST00000682859.1:c.10004-62G>A	ENSP00000508222.1:n.10004-62G>A
ENST00000683791.1:c.3090-62G>A
ENST00000684460.1:c.7285-62G>A
ENST00000684548.1:c.10004-62G>A	ENSP00000507421.1:n.10004-62G>A
ENST00000684590.1:c.4451-62G>A	ENSP00000507376.1:n.4451-62G>A
ENST00000684656.1:c.7330-62G>A
ENST00000613296.6:c.10385-62G>A MANE Select	ENSP00000482968.1:n.10385-62G>A
ENST00000651057.1:c.539-62G>A	ENSP00000498504.1:n.539-62G>A
ENST00000651434.1:c.1741-62G>A
ENST00000652487.1:c.1482-62G>A
ENST00000423048.5:c.3876-62G>A	ENSP00000399833.1:n.3876-62G>A
ENST00000484298.5:c.10259-62G>A	ENSP00000478155.1:n.10259-62G>A
ENST00000613296.4:c.10385-62G>A	ENSP00000482968.1:n.10385-62G>A
ENST00000614410.4:c.10385-62G>A	ENSP00000479094.1:n.10385-62G>A
ENST00000620466.4:n.4188-62G>A
NM_015120.4:c.10388-62G>A , LRG_741t1:c.10388-62G>A	NP_055935.4:n.10388-62G>A
NM_001378454.1:c.10385-62G>A MANE Select	NP_001365383.1:n.10385-62G>A