Canonical Allele Identifier: CA347263978

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1468431
• ClinVar RCV Id: RCV001968977
• dbSNP Id: rs2103889340
• MyVariant Identifiers: chr2:g.73716830C>T (hg19) ; chr2:g.73489703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489703C>T , CM000664.2:g.73489703C>T	GRCh38
NC_000002.11:g.73716830C>T , CM000664.1:g.73716830C>T	GRCh37
NC_000002.10:g.73570338C>T	NCBI36
NG_011690.1:g.108951C>T , LRG_741:g.108951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7363C>T	ENSP00000507671.1:p.His2455Tyr
ENST00000682801.1:c.7363C>T	ENSP00000507862.1:p.His2455Tyr
ENST00000682859.1:c.7363C>T	ENSP00000508222.1:p.His2455Tyr
ENST00000683791.1:c.755C>T
ENST00000684460.1:c.4815C>T
ENST00000684548.1:c.7363C>T	ENSP00000507421.1:p.His2455Tyr
ENST00000684590.1:c.1810C>T	ENSP00000507376.1:p.His604Tyr
ENST00000684656.1:c.4815C>T
ENST00000613296.6:c.7744C>T MANE Select	ENSP00000482968.1:p.His2582Tyr
ENST00000651434.1:c.896-30072C>T
ENST00000423048.5:c.2575C>T	ENSP00000399833.1:p.His859Tyr
ENST00000484298.5:c.7618C>T	ENSP00000478155.1:p.His2540Tyr
ENST00000613296.4:c.7744C>T	ENSP00000482968.1:p.His2582Tyr
ENST00000614410.4:c.7744C>T	ENSP00000479094.1:p.His2582Tyr
ENST00000620466.4:n.1547C>T
NM_015120.4:c.7747C>T , LRG_741t1:c.7747C>T	NP_055935.4:p.His2583Tyr
NM_001378454.1:c.7744C>T MANE Select	NP_001365383.1:p.His2582Tyr