Canonical Allele Identifier: CA347285954

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799871C>A (hg19) ; chr2:g.73572744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572744C>A , CM000664.2:g.73572744C>A	GRCh38
NC_000002.11:g.73799871C>A , CM000664.1:g.73799871C>A	GRCh37
NC_000002.10:g.73653379C>A	NCBI36
NG_011690.1:g.191992C>A , LRG_741:g.191992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10486C>A	ENSP00000507671.1:p.Leu3496Met
ENST00000682801.1:c.10486C>A	ENSP00000507862.1:p.Leu3496Met
ENST00000682859.1:c.10486C>A	ENSP00000508222.1:p.Leu3496Met
ENST00000683791.1:c.3572C>A
ENST00000684460.1:c.7767C>A
ENST00000684548.1:c.10486C>A	ENSP00000507421.1:p.Leu3496Met
ENST00000684590.1:c.4933C>A	ENSP00000507376.1:p.Leu1645Met
ENST00000684656.1:c.7812C>A
ENST00000613296.6:c.10867C>A MANE Select	ENSP00000482968.1:p.Leu3623Met
ENST00000651057.1:c.1021C>A	ENSP00000498504.1:p.Leu341Met
ENST00000651434.1:c.2223C>A
ENST00000651750.1:c.255C>A
ENST00000652487.1:c.1964C>A
ENST00000423048.5:c.4358C>A	ENSP00000399833.1:n.4358C>A
ENST00000484298.5:c.10741C>A	ENSP00000478155.1:p.Leu3581Met
ENST00000613296.4:c.10867C>A	ENSP00000482968.1:p.Leu3623Met
ENST00000614410.4:c.10867C>A	ENSP00000479094.1:p.Leu3623Met
ENST00000620466.4:n.4670C>A
NM_015120.4:c.10870C>A , LRG_741t1:c.10870C>A	NP_055935.4:p.Leu3624Met
NM_001378454.1:c.10867C>A MANE Select	NP_001365383.1:p.Leu3623Met