Canonical Allele Identifier: CA426765733

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2099817
• ClinVar RCV Id: RCV003021906
• MyVariant Identifiers: chr2:g.73716886C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489759C>T , CM000664.2:g.73489759C>T	GRCh38
NC_000002.11:g.73716886C>T , CM000664.1:g.73716886C>T	GRCh37
NC_000002.10:g.73570394C>T	NCBI36
NG_011690.1:g.109007C>T , LRG_741:g.109007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7419C>T	ENSP00000507671.1:p.His2473=
ENST00000682801.1:c.7419C>T	ENSP00000507862.1:p.His2473=
ENST00000682859.1:c.7419C>T	ENSP00000508222.1:p.His2473=
ENST00000683791.1:c.811C>T
ENST00000684460.1:c.4871C>T
ENST00000684548.1:c.7419C>T	ENSP00000507421.1:p.His2473=
ENST00000684590.1:c.1866C>T	ENSP00000507376.1:p.His622=
ENST00000684656.1:c.4871C>T
ENST00000613296.6:c.7800C>T MANE Select	ENSP00000482968.1:p.His2600=
ENST00000651434.1:c.896-30016C>T
ENST00000423048.5:c.2631C>T	ENSP00000399833.1:p.His877=
ENST00000484298.5:c.7674C>T	ENSP00000478155.1:p.His2558=
ENST00000613296.4:c.7800C>T	ENSP00000482968.1:p.His2600=
ENST00000614410.4:c.7800C>T	ENSP00000479094.1:p.His2600=
ENST00000620466.4:n.1603C>T
NM_015120.4:c.7803C>T , LRG_741t1:c.7803C>T	NP_055935.4:p.His2601=
NM_001378454.1:c.7800C>T MANE Select	NP_001365383.1:p.His2600=