Canonical Allele Identifier: CA347283076

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572349-C-A
• MyVariant Identifiers: chr2:g.73799476C>A (hg19) ; chr2:g.73572349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572349C>A , CM000664.2:g.73572349C>A	GRCh38
NC_000002.11:g.73799476C>A , CM000664.1:g.73799476C>A	GRCh37
NC_000002.10:g.73652984C>A	NCBI36
NG_011690.1:g.191597C>A , LRG_741:g.191597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10091C>A	ENSP00000507671.1:p.Pro3364Gln
ENST00000682801.1:c.10091C>A	ENSP00000507862.1:p.Pro3364Gln
ENST00000682859.1:c.10091C>A	ENSP00000508222.1:p.Pro3364Gln
ENST00000683791.1:c.3177C>A
ENST00000684460.1:c.7372C>A
ENST00000684548.1:c.10091C>A	ENSP00000507421.1:p.Pro3364Gln
ENST00000684590.1:c.4538C>A	ENSP00000507376.1:p.Pro1513Gln
ENST00000684656.1:c.7417C>A
ENST00000613296.6:c.10472C>A MANE Select	ENSP00000482968.1:p.Pro3491Gln
ENST00000651057.1:c.626C>A	ENSP00000498504.1:p.Pro209Gln
ENST00000651434.1:c.1828C>A
ENST00000652487.1:c.1569C>A
ENST00000423048.5:c.3963C>A	ENSP00000399833.1:n.3963C>A
ENST00000484298.5:c.10346C>A	ENSP00000478155.1:p.Pro3449Gln
ENST00000613296.4:c.10472C>A	ENSP00000482968.1:p.Pro3491Gln
ENST00000614410.4:c.10472C>A	ENSP00000479094.1:p.Pro3491Gln
ENST00000620466.4:n.4275C>A
NM_015120.4:c.10475C>A , LRG_741t1:c.10475C>A	NP_055935.4:p.Pro3492Gln
NM_001378454.1:c.10472C>A MANE Select	NP_001365383.1:p.Pro3491Gln