Canonical Allele Identifier: CA347268093

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602269A>T , CM000664.2:g.73602269A>T	GRCh38
NC_000002.11:g.73829396A>T , CM000664.1:g.73829396A>T	GRCh37
NC_000002.10:g.73682904A>T	NCBI36
NG_011690.1:g.221517A>T , LRG_741:g.221517A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12199A>T MANE Select	NP_001365383.1:p.Lys4067Ter
ENST00000613296.6:c.12199A>T MANE Select	ENSP00000482968.1:p.Lys4067Ter
NM_015120.4:c.12202A>T , LRG_741t1:c.12202A>T	NP_055935.4:p.Lys4068Ter
ENST00000464408.3:n.374A>T
ENST00000484298.5:c.12073A>T	ENSP00000478155.1:p.Lys4025Ter
ENST00000613296.4:c.12199A>T	ENSP00000482968.1:p.Lys4067Ter
ENST00000620466.4:n.6002A>T
ENST00000651057.1:c.2353A>T	ENSP00000498504.1:p.Lys785Ter
ENST00000651434.1:c.3555A>T
ENST00000651750.1:c.1345A>T
ENST00000652487.1:c.3370A>T
ENST00000682565.1:c.11818A>T	ENSP00000507671.1:p.Lys3940Ter
ENST00000682801.1:c.11251A>T	ENSP00000507862.1:p.Lys3751Ter
ENST00000682859.1:c.11818A>T	ENSP00000508222.1:p.Lys3940Ter
ENST00000683791.1:c.4904A>T
ENST00000684460.1:c.9099A>T
ENST00000684548.1:c.11818A>T	ENSP00000507421.1:p.Lys3940Ter
ENST00000684590.1:c.6265A>T	ENSP00000507376.1:p.Lys2089Ter
ENST00000684656.1:c.9283A>T