Canonical Allele Identifier: CA347283672

Gene: ALMS1

Linked Data

• dbSNP Id: rs2104104203
• MyVariant Identifiers: chr2:g.73799564C>A (hg19) ; chr2:g.73572437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572437C>A , CM000664.2:g.73572437C>A	GRCh38
NC_000002.11:g.73799564C>A , CM000664.1:g.73799564C>A	GRCh37
NC_000002.10:g.73653072C>A	NCBI36
NG_011690.1:g.191685C>A , LRG_741:g.191685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10179C>A	ENSP00000507671.1:p.Asp3393Glu
ENST00000682801.1:c.10179C>A	ENSP00000507862.1:p.Asp3393Glu
ENST00000682859.1:c.10179C>A	ENSP00000508222.1:p.Asp3393Glu
ENST00000683791.1:c.3265C>A
ENST00000684460.1:c.7460C>A
ENST00000684548.1:c.10179C>A	ENSP00000507421.1:p.Asp3393Glu
ENST00000684590.1:c.4626C>A	ENSP00000507376.1:p.Asp1542Glu
ENST00000684656.1:c.7505C>A
ENST00000613296.6:c.10560C>A MANE Select	ENSP00000482968.1:p.Asp3520Glu
ENST00000651057.1:c.714C>A	ENSP00000498504.1:p.Asp238Glu
ENST00000651434.1:c.1916C>A
ENST00000652487.1:c.1657C>A
ENST00000423048.5:c.4051C>A	ENSP00000399833.1:n.4051C>A
ENST00000484298.5:c.10434C>A	ENSP00000478155.1:p.Asp3478Glu
ENST00000613296.4:c.10560C>A	ENSP00000482968.1:p.Asp3520Glu
ENST00000614410.4:c.10560C>A	ENSP00000479094.1:p.Asp3520Glu
ENST00000620466.4:n.4363C>A
NM_015120.4:c.10563C>A , LRG_741t1:c.10563C>A	NP_055935.4:p.Asp3521Glu
NM_001378454.1:c.10560C>A MANE Select	NP_001365383.1:p.Asp3520Glu