Canonical Allele Identifier: CA427000729

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717087T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489960T>G , CM000664.2:g.73489960T>G	GRCh38
NC_000002.11:g.73717087T>G , CM000664.1:g.73717087T>G	GRCh37
NC_000002.10:g.73570595T>G	NCBI36
NG_011690.1:g.109208T>G , LRG_741:g.109208T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7620T>G	ENSP00000507671.1:p.Gly2540=
ENST00000682801.1:c.7620T>G	ENSP00000507862.1:p.Gly2540=
ENST00000682859.1:c.7620T>G	ENSP00000508222.1:p.Gly2540=
ENST00000683791.1:c.1012T>G
ENST00000684460.1:c.5072T>G
ENST00000684548.1:c.7620T>G	ENSP00000507421.1:p.Gly2540=
ENST00000684590.1:c.2067T>G	ENSP00000507376.1:p.Gly689=
ENST00000684656.1:c.5072T>G
ENST00000613296.6:c.8001T>G MANE Select	ENSP00000482968.1:p.Gly2667=
ENST00000651434.1:c.896-29815T>G
ENST00000423048.5:c.2832T>G	ENSP00000399833.1:p.Gly944=
ENST00000484298.5:c.7875T>G	ENSP00000478155.1:p.Gly2625=
ENST00000613296.4:c.8001T>G	ENSP00000482968.1:p.Gly2667=
ENST00000614410.4:c.8001T>G	ENSP00000479094.1:p.Gly2667=
ENST00000620466.4:n.1804T>G
NM_015120.4:c.8004T>G , LRG_741t1:c.8004T>G	NP_055935.4:p.Gly2668=
NM_001378454.1:c.8001T>G MANE Select	NP_001365383.1:p.Gly2667=