Canonical Allele Identifier: CA347264008

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716844T>A (hg19) ; chr2:g.73489717T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489717T>A , CM000664.2:g.73489717T>A	GRCh38
NC_000002.11:g.73716844T>A , CM000664.1:g.73716844T>A	GRCh37
NC_000002.10:g.73570352T>A	NCBI36
NG_011690.1:g.108965T>A , LRG_741:g.108965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7377T>A	ENSP00000507671.1:p.Cys2459Ter
ENST00000682801.1:c.7377T>A	ENSP00000507862.1:p.Cys2459Ter
ENST00000682859.1:c.7377T>A	ENSP00000508222.1:p.Cys2459Ter
ENST00000683791.1:c.769T>A
ENST00000684460.1:c.4829T>A
ENST00000684548.1:c.7377T>A	ENSP00000507421.1:p.Cys2459Ter
ENST00000684590.1:c.1824T>A	ENSP00000507376.1:p.Cys608Ter
ENST00000684656.1:c.4829T>A
ENST00000613296.6:c.7758T>A MANE Select	ENSP00000482968.1:p.Cys2586Ter
ENST00000651434.1:c.896-30058T>A
ENST00000423048.5:c.2589T>A	ENSP00000399833.1:p.Cys863Ter
ENST00000484298.5:c.7632T>A	ENSP00000478155.1:p.Cys2544Ter
ENST00000613296.4:c.7758T>A	ENSP00000482968.1:p.Cys2586Ter
ENST00000614410.4:c.7758T>A	ENSP00000479094.1:p.Cys2586Ter
ENST00000620466.4:n.1561T>A
NM_015120.4:c.7761T>A , LRG_741t1:c.7761T>A	NP_055935.4:p.Cys2587Ter
NM_001378454.1:c.7758T>A MANE Select	NP_001365383.1:p.Cys2586Ter