Canonical Allele Identifier: CA347263961

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2976930
• ClinVar RCV Id: RCV003839064
• MyVariant Identifiers: chr2:g.73716824G>A (hg19) ; chr2:g.73489697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489697G>A , CM000664.2:g.73489697G>A	GRCh38
NC_000002.11:g.73716824G>A , CM000664.1:g.73716824G>A	GRCh37
NC_000002.10:g.73570332G>A	NCBI36
NG_011690.1:g.108945G>A , LRG_741:g.108945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7357G>A	ENSP00000507671.1:p.Glu2453Lys
ENST00000682801.1:c.7357G>A	ENSP00000507862.1:p.Glu2453Lys
ENST00000682859.1:c.7357G>A	ENSP00000508222.1:p.Glu2453Lys
ENST00000683791.1:c.749G>A
ENST00000684460.1:c.4809G>A
ENST00000684548.1:c.7357G>A	ENSP00000507421.1:p.Glu2453Lys
ENST00000684590.1:c.1804G>A	ENSP00000507376.1:p.Glu602Lys
ENST00000684656.1:c.4809G>A
ENST00000613296.6:c.7738G>A MANE Select	ENSP00000482968.1:p.Glu2580Lys
ENST00000651434.1:c.896-30078G>A
ENST00000423048.5:c.2569G>A	ENSP00000399833.1:p.Glu857Lys
ENST00000484298.5:c.7612G>A	ENSP00000478155.1:p.Glu2538Lys
ENST00000613296.4:c.7738G>A	ENSP00000482968.1:p.Glu2580Lys
ENST00000614410.4:c.7738G>A	ENSP00000479094.1:p.Glu2580Lys
ENST00000620466.4:n.1541G>A
NM_015120.4:c.7741G>A , LRG_741t1:c.7741G>A	NP_055935.4:p.Glu2581Lys
NM_001378454.1:c.7738G>A MANE Select	NP_001365383.1:p.Glu2580Lys