Canonical Allele Identifier: CA1714450

Gene: ALMS1

Linked Data

• dbSNP Id: rs763130563
• ExAC: 2:73717416 A / T
• gnomAD v2: 2-73717416-A-T
• gnomAD v4: 2-73490289-A-T
• MyVariant Identifiers: chr2:g.73717416A>T (hg19) ; chr2:g.73490289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490289A>T , CM000664.2:g.73490289A>T	GRCh38
NC_000002.11:g.73717416A>T , CM000664.1:g.73717416A>T	GRCh37
NC_000002.10:g.73570924A>T	NCBI36
NG_011690.1:g.109537A>T , LRG_741:g.109537A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7949A>T	ENSP00000507671.1:p.His2650Leu
ENST00000682801.1:c.7949A>T	ENSP00000507862.1:p.His2650Leu
ENST00000682859.1:c.7949A>T	ENSP00000508222.1:p.His2650Leu
ENST00000683791.1:c.1341A>T
ENST00000684460.1:c.5401A>T
ENST00000684548.1:c.7949A>T	ENSP00000507421.1:p.His2650Leu
ENST00000684590.1:c.2396A>T	ENSP00000507376.1:p.His799Leu
ENST00000684656.1:c.5401A>T
ENST00000613296.6:c.8330A>T MANE Select	ENSP00000482968.1:p.His2777Leu
ENST00000651434.1:c.896-29486A>T
ENST00000423048.5:c.3030+131A>T	ENSP00000399833.1:n.3030+131A>T
ENST00000484298.5:c.8204A>T	ENSP00000478155.1:p.His2735Leu
ENST00000613296.4:c.8330A>T	ENSP00000482968.1:p.His2777Leu
ENST00000614410.4:c.8330A>T	ENSP00000479094.1:p.His2777Leu
ENST00000620466.4:n.2133A>T
NM_015120.4:c.8333A>T , LRG_741t1:c.8333A>T	NP_055935.4:p.His2778Leu
NM_001378454.1:c.8330A>T MANE Select	NP_001365383.1:p.His2777Leu