Canonical Allele Identifier: CA347284562

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799663T>A (hg19) ; chr2:g.73572536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572536T>A , CM000664.2:g.73572536T>A	GRCh38
NC_000002.11:g.73799663T>A , CM000664.1:g.73799663T>A	GRCh37
NC_000002.10:g.73653171T>A	NCBI36
NG_011690.1:g.191784T>A , LRG_741:g.191784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10278T>A	ENSP00000507671.1:p.Asn3426Lys
ENST00000682801.1:c.10278T>A	ENSP00000507862.1:p.Asn3426Lys
ENST00000682859.1:c.10278T>A	ENSP00000508222.1:p.Asn3426Lys
ENST00000683791.1:c.3364T>A
ENST00000684460.1:c.7559T>A
ENST00000684548.1:c.10278T>A	ENSP00000507421.1:p.Asn3426Lys
ENST00000684590.1:c.4725T>A	ENSP00000507376.1:p.Asn1575Lys
ENST00000684656.1:c.7604T>A
ENST00000613296.6:c.10659T>A MANE Select	ENSP00000482968.1:p.Asn3553Lys
ENST00000651057.1:c.813T>A	ENSP00000498504.1:p.Asn271Lys
ENST00000651434.1:c.2015T>A
ENST00000651750.1:c.47T>A
ENST00000652487.1:c.1756T>A
ENST00000423048.5:c.4150T>A	ENSP00000399833.1:n.4150T>A
ENST00000484298.5:c.10533T>A	ENSP00000478155.1:p.Asn3511Lys
ENST00000613296.4:c.10659T>A	ENSP00000482968.1:p.Asn3553Lys
ENST00000614410.4:c.10659T>A	ENSP00000479094.1:p.Asn3553Lys
ENST00000620466.4:n.4462T>A
NM_015120.4:c.10662T>A , LRG_741t1:c.10662T>A	NP_055935.4:p.Asn3554Lys
NM_001378454.1:c.10659T>A MANE Select	NP_001365383.1:p.Asn3553Lys