Canonical Allele Identifier: CA347284547

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799661A>G (hg19) ; chr2:g.73572534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572534A>G , CM000664.2:g.73572534A>G	GRCh38
NC_000002.11:g.73799661A>G , CM000664.1:g.73799661A>G	GRCh37
NC_000002.10:g.73653169A>G	NCBI36
NG_011690.1:g.191782A>G , LRG_741:g.191782A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10276A>G	ENSP00000507671.1:p.Asn3426Asp
ENST00000682801.1:c.10276A>G	ENSP00000507862.1:p.Asn3426Asp
ENST00000682859.1:c.10276A>G	ENSP00000508222.1:p.Asn3426Asp
ENST00000683791.1:c.3362A>G
ENST00000684460.1:c.7557A>G
ENST00000684548.1:c.10276A>G	ENSP00000507421.1:p.Asn3426Asp
ENST00000684590.1:c.4723A>G	ENSP00000507376.1:p.Asn1575Asp
ENST00000684656.1:c.7602A>G
ENST00000613296.6:c.10657A>G MANE Select	ENSP00000482968.1:p.Asn3553Asp
ENST00000651057.1:c.811A>G	ENSP00000498504.1:p.Asn271Asp
ENST00000651434.1:c.2013A>G
ENST00000651750.1:c.45A>G
ENST00000652487.1:c.1754A>G
ENST00000423048.5:c.4148A>G	ENSP00000399833.1:n.4148A>G
ENST00000484298.5:c.10531A>G	ENSP00000478155.1:p.Asn3511Asp
ENST00000613296.4:c.10657A>G	ENSP00000482968.1:p.Asn3553Asp
ENST00000614410.4:c.10657A>G	ENSP00000479094.1:p.Asn3553Asp
ENST00000620466.4:n.4460A>G
NM_015120.4:c.10660A>G , LRG_741t1:c.10660A>G	NP_055935.4:p.Asn3554Asp
NM_001378454.1:c.10657A>G MANE Select	NP_001365383.1:p.Asn3553Asp