Canonical Allele Identifier: CA347275023

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608529A>C , CM000664.2:g.73608529A>C	GRCh38
NC_000002.11:g.73835656A>C , CM000664.1:g.73835656A>C	GRCh37
NC_000002.10:g.73689164A>C	NCBI36
NG_011690.1:g.227777A>C , LRG_741:g.227777A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12417A>C MANE Select	NP_001365383.1:p.Lys4139Asn
ENST00000613296.6:c.12417A>C MANE Select	ENSP00000482968.1:p.Lys4139Asn
NM_015120.4:c.12420A>C , LRG_741t1:c.12420A>C	NP_055935.4:p.Lys4140Asn
ENST00000484298.5:c.12291A>C	ENSP00000478155.1:p.Lys4097Asn
ENST00000490821.1:n.61A>C
ENST00000613296.4:c.12417A>C	ENSP00000482968.1:p.Lys4139Asn
ENST00000651057.1:c.2571A>C	ENSP00000498504.1:p.Lys857Asn
ENST00000651434.1:c.3773A>C
ENST00000651750.1:c.1563A>C
ENST00000652487.1:c.3588A>C
ENST00000682565.1:c.12114A>C	ENSP00000507671.1:n.12114A>C
ENST00000682801.1:c.11469A>C	ENSP00000507862.1:p.Lys3823Asn
ENST00000682859.1:c.12036A>C	ENSP00000508222.1:p.Lys4012Asn
ENST00000683108.1:n.159A>C
ENST00000683147.1:n.3496A>C
ENST00000683791.1:c.5122A>C
ENST00000684460.1:c.9317A>C
ENST00000684548.1:c.12036A>C	ENSP00000507421.1:p.Lys4012Asn
ENST00000684590.1:c.6483A>C	ENSP00000507376.1:p.Lys2161Asn
ENST00000684656.1:c.9501A>C