Canonical Allele Identifier: CA50386332

Gene: ALMS1

Linked Data

• dbSNP Id: rs375330698
• gnomAD v4: 2-73572519-C-T
• MyVariant Identifiers: chr2:g.73799646C>T (hg19) ; chr2:g.73572519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572519C>T , CM000664.2:g.73572519C>T	GRCh38
NC_000002.11:g.73799646C>T , CM000664.1:g.73799646C>T	GRCh37
NC_000002.10:g.73653154C>T	NCBI36
NG_011690.1:g.191767C>T , LRG_741:g.191767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10261C>T	ENSP00000507671.1:p.Leu3421Phe
ENST00000682801.1:c.10261C>T	ENSP00000507862.1:p.Leu3421Phe
ENST00000682859.1:c.10261C>T	ENSP00000508222.1:p.Leu3421Phe
ENST00000683791.1:c.3347C>T
ENST00000684460.1:c.7542C>T
ENST00000684548.1:c.10261C>T	ENSP00000507421.1:p.Leu3421Phe
ENST00000684590.1:c.4708C>T	ENSP00000507376.1:p.Leu1570Phe
ENST00000684656.1:c.7587C>T
ENST00000613296.6:c.10642C>T MANE Select	ENSP00000482968.1:p.Leu3548Phe
ENST00000651057.1:c.796C>T	ENSP00000498504.1:p.Leu266Phe
ENST00000651434.1:c.1998C>T
ENST00000651750.1:c.30C>T
ENST00000652487.1:c.1739C>T
ENST00000423048.5:c.4133C>T	ENSP00000399833.1:n.4133C>T
ENST00000484298.5:c.10516C>T	ENSP00000478155.1:p.Leu3506Phe
ENST00000613296.4:c.10642C>T	ENSP00000482968.1:p.Leu3548Phe
ENST00000614410.4:c.10642C>T	ENSP00000479094.1:p.Leu3548Phe
ENST00000620466.4:n.4445C>T
NM_015120.4:c.10645C>T , LRG_741t1:c.10645C>T	NP_055935.4:p.Leu3549Phe
NM_001378454.1:c.10642C>T MANE Select	NP_001365383.1:p.Leu3548Phe