Canonical Allele Identifier: CA50386340

Gene: ALMS1

Linked Data

• dbSNP Id: rs922225565
• gnomAD v3: 2-73572524-C-T
• gnomAD v4: 2-73572524-C-T
• MyVariant Identifiers: chr2:g.73799651C>T (hg19) ; chr2:g.73572524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572524C>T , CM000664.2:g.73572524C>T	GRCh38
NC_000002.11:g.73799651C>T , CM000664.1:g.73799651C>T	GRCh37
NC_000002.10:g.73653159C>T	NCBI36
NG_011690.1:g.191772C>T , LRG_741:g.191772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10266C>T	ENSP00000507671.1:p.Ser3422=
ENST00000682801.1:c.10266C>T	ENSP00000507862.1:p.Ser3422=
ENST00000682859.1:c.10266C>T	ENSP00000508222.1:p.Ser3422=
ENST00000683791.1:c.3352C>T
ENST00000684460.1:c.7547C>T
ENST00000684548.1:c.10266C>T	ENSP00000507421.1:p.Ser3422=
ENST00000684590.1:c.4713C>T	ENSP00000507376.1:p.Ser1571=
ENST00000684656.1:c.7592C>T
ENST00000613296.6:c.10647C>T MANE Select	ENSP00000482968.1:p.Ser3549=
ENST00000651057.1:c.801C>T	ENSP00000498504.1:p.Ser267=
ENST00000651434.1:c.2003C>T
ENST00000651750.1:c.35C>T
ENST00000652487.1:c.1744C>T
ENST00000423048.5:c.4138C>T	ENSP00000399833.1:n.4138C>T
ENST00000484298.5:c.10521C>T	ENSP00000478155.1:p.Ser3507=
ENST00000613296.4:c.10647C>T	ENSP00000482968.1:p.Ser3549=
ENST00000614410.4:c.10647C>T	ENSP00000479094.1:p.Ser3549=
ENST00000620466.4:n.4450C>T
NM_015120.4:c.10650C>T , LRG_741t1:c.10650C>T	NP_055935.4:p.Ser3550=
NM_001378454.1:c.10647C>T MANE Select	NP_001365383.1:p.Ser3549=