Canonical Allele Identifier: CA347265719

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828377C>G (hg19) ; chr2:g.73601250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601250C>G , CM000664.2:g.73601250C>G	GRCh38
NC_000002.11:g.73828377C>G , CM000664.1:g.73828377C>G	GRCh37
NC_000002.10:g.73681885C>G	NCBI36
NG_011690.1:g.220498C>G , LRG_741:g.220498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11547C>G	ENSP00000507671.1:p.Asn3849Lys
ENST00000682801.1:c.11167-935C>G	ENSP00000507862.1:n.11167-935C>G
ENST00000682859.1:c.11547C>G	ENSP00000508222.1:p.Asn3849Lys
ENST00000683791.1:c.4633C>G
ENST00000684460.1:c.8828C>G
ENST00000684548.1:c.11547C>G	ENSP00000507421.1:p.Asn3849Lys
ENST00000684590.1:c.5994C>G	ENSP00000507376.1:p.Asn1998Lys
ENST00000684656.1:c.9012C>G
ENST00000613296.6:c.11928C>G MANE Select	ENSP00000482968.1:p.Asn3976Lys
ENST00000651057.1:c.2082C>G	ENSP00000498504.1:p.Asn694Lys
ENST00000651434.1:c.3284C>G
ENST00000651750.1:c.1260+369C>G
ENST00000652487.1:c.3099C>G
ENST00000464408.3:n.103C>G
ENST00000484298.5:c.11802C>G	ENSP00000478155.1:p.Asn3934Lys
ENST00000613296.4:c.11928C>G	ENSP00000482968.1:p.Asn3976Lys
ENST00000620466.4:n.5731C>G
NM_015120.4:c.11931C>G , LRG_741t1:c.11931C>G	NP_055935.4:p.Asn3977Lys
NM_001378454.1:c.11928C>G MANE Select	NP_001365383.1:p.Asn3976Lys