Canonical Allele Identifier: CA1260981692

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490210A= , CM000664.2:g.73490210A=	GRCh38
NC_000002.11:g.73717337A= , CM000664.1:g.73717337A=	GRCh37
NC_000002.10:g.73570845A=	NCBI36
NG_011690.1:g.109458A= , LRG_741:g.109458A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7870A=	ENSP00000507671.1:p.Asn2624=
ENST00000682801.1:c.7870A=	ENSP00000507862.1:p.Asn2624=
ENST00000682859.1:c.7870A=	ENSP00000508222.1:p.Asn2624=
ENST00000683791.1:c.1262A=
ENST00000684460.1:c.5322A=
ENST00000684548.1:c.7870A=	ENSP00000507421.1:p.Asn2624=
ENST00000684590.1:c.2317A=	ENSP00000507376.1:p.Asn773=
ENST00000684656.1:c.5322A=
ENST00000613296.6:c.8251A= MANE Select	ENSP00000482968.1:p.Asn2751=
ENST00000651434.1:c.896-29565A=
ENST00000423048.5:c.3030+52A=	ENSP00000399833.1:n.3030+52A=
ENST00000484298.5:c.8125A=	ENSP00000478155.1:p.Asn2709=
ENST00000613296.4:c.8251A=	ENSP00000482968.1:p.Asn2751=
ENST00000614410.4:c.8251A=	ENSP00000479094.1:p.Asn2751=
ENST00000620466.4:n.2054A=
NM_015120.4:c.8254A= , LRG_741t1:c.8254A=	NP_055935.4:p.Asn2752=
NM_001378454.1:c.8251A= MANE Select	NP_001365383.1:p.Asn2751=