Canonical Allele Identifier: CA427024135

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799672C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572545C>T , CM000664.2:g.73572545C>T	GRCh38
NC_000002.11:g.73799672C>T , CM000664.1:g.73799672C>T	GRCh37
NC_000002.10:g.73653180C>T	NCBI36
NG_011690.1:g.191793C>T , LRG_741:g.191793C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10287C>T	ENSP00000507671.1:p.Asn3429=
ENST00000682801.1:c.10287C>T	ENSP00000507862.1:p.Asn3429=
ENST00000682859.1:c.10287C>T	ENSP00000508222.1:p.Asn3429=
ENST00000683791.1:c.3373C>T
ENST00000684460.1:c.7568C>T
ENST00000684548.1:c.10287C>T	ENSP00000507421.1:p.Asn3429=
ENST00000684590.1:c.4734C>T	ENSP00000507376.1:p.Asn1578=
ENST00000684656.1:c.7613C>T
ENST00000613296.6:c.10668C>T MANE Select	ENSP00000482968.1:p.Asn3556=
ENST00000651057.1:c.822C>T	ENSP00000498504.1:p.Asn274=
ENST00000651434.1:c.2024C>T
ENST00000651750.1:c.56C>T
ENST00000652487.1:c.1765C>T
ENST00000423048.5:c.4159C>T	ENSP00000399833.1:n.4159C>T
ENST00000484298.5:c.10542C>T	ENSP00000478155.1:p.Asn3514=
ENST00000613296.4:c.10668C>T	ENSP00000482968.1:p.Asn3556=
ENST00000614410.4:c.10668C>T	ENSP00000479094.1:p.Asn3556=
ENST00000620466.4:n.4471C>T
NM_015120.4:c.10671C>T , LRG_741t1:c.10671C>T	NP_055935.4:p.Asn3557=
NM_001378454.1:c.10668C>T MANE Select	NP_001365383.1:p.Asn3556=