Canonical Allele Identifier: CA347264108

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716892T>G (hg19) ; chr2:g.73489765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489765T>G , CM000664.2:g.73489765T>G	GRCh38
NC_000002.11:g.73716892T>G , CM000664.1:g.73716892T>G	GRCh37
NC_000002.10:g.73570400T>G	NCBI36
NG_011690.1:g.109013T>G , LRG_741:g.109013T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7425T>G	ENSP00000507671.1:p.Cys2475Trp
ENST00000682801.1:c.7425T>G	ENSP00000507862.1:p.Cys2475Trp
ENST00000682859.1:c.7425T>G	ENSP00000508222.1:p.Cys2475Trp
ENST00000683791.1:c.817T>G
ENST00000684460.1:c.4877T>G
ENST00000684548.1:c.7425T>G	ENSP00000507421.1:p.Cys2475Trp
ENST00000684590.1:c.1872T>G	ENSP00000507376.1:p.Cys624Trp
ENST00000684656.1:c.4877T>G
ENST00000613296.6:c.7806T>G MANE Select	ENSP00000482968.1:p.Cys2602Trp
ENST00000651434.1:c.896-30010T>G
ENST00000423048.5:c.2637T>G	ENSP00000399833.1:p.Cys879Trp
ENST00000484298.5:c.7680T>G	ENSP00000478155.1:p.Cys2560Trp
ENST00000613296.4:c.7806T>G	ENSP00000482968.1:p.Cys2602Trp
ENST00000614410.4:c.7806T>G	ENSP00000479094.1:p.Cys2602Trp
ENST00000620466.4:n.1609T>G
NM_015120.4:c.7809T>G , LRG_741t1:c.7809T>G	NP_055935.4:p.Cys2603Trp
NM_001378454.1:c.7806T>G MANE Select	NP_001365383.1:p.Cys2602Trp