Canonical Allele Identifier: CA1714480

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490455T>A , CM000664.2:g.73490455T>A	GRCh38
NC_000002.11:g.73717582T>A , CM000664.1:g.73717582T>A	GRCh37
NC_000002.10:g.73571090T>A	NCBI36
NG_011690.1:g.109703T>A , LRG_741:g.109703T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8496T>A MANE Select	NP_001365383.1:p.Asn2832Lys
ENST00000613296.6:c.8496T>A MANE Select	ENSP00000482968.1:p.Asn2832Lys
NM_015120.4:c.8499T>A , LRG_741t1:c.8499T>A	NP_055935.4:p.Asn2833Lys
ENST00000423048.5:c.3030+297T>A	ENSP00000399833.1:n.3030+297T>A
ENST00000484298.5:c.8370T>A	ENSP00000478155.1:p.Asn2790Lys
ENST00000613296.4:c.8496T>A	ENSP00000482968.1:p.Asn2832Lys
ENST00000614410.4:c.8496T>A	ENSP00000479094.1:p.Asn2832Lys
ENST00000620466.4:n.2299T>A
ENST00000651434.1:c.896-29320T>A
ENST00000682565.1:c.8115T>A	ENSP00000507671.1:p.Asn2705Lys
ENST00000682801.1:c.8115T>A	ENSP00000507862.1:p.Asn2705Lys
ENST00000682859.1:c.8115T>A	ENSP00000508222.1:p.Asn2705Lys
ENST00000683791.1:c.1507T>A
ENST00000684460.1:c.5567T>A
ENST00000684548.1:c.8115T>A	ENSP00000507421.1:p.Asn2705Lys
ENST00000684590.1:c.2562T>A	ENSP00000507376.1:p.Asn854Lys
ENST00000684656.1:c.5567T>A