Canonical Allele Identifier: CA426765681

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2449605
• ClinVar RCV Id: RCV003171638
• MyVariant Identifiers: chr2:g.73716875C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489748C>T , CM000664.2:g.73489748C>T	GRCh38
NC_000002.11:g.73716875C>T , CM000664.1:g.73716875C>T	GRCh37
NC_000002.10:g.73570383C>T	NCBI36
NG_011690.1:g.108996C>T , LRG_741:g.108996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7408C>T	ENSP00000507671.1:p.Leu2470=
ENST00000682801.1:c.7408C>T	ENSP00000507862.1:p.Leu2470=
ENST00000682859.1:c.7408C>T	ENSP00000508222.1:p.Leu2470=
ENST00000683791.1:c.800C>T
ENST00000684460.1:c.4860C>T
ENST00000684548.1:c.7408C>T	ENSP00000507421.1:p.Leu2470=
ENST00000684590.1:c.1855C>T	ENSP00000507376.1:p.Leu619=
ENST00000684656.1:c.4860C>T
ENST00000613296.6:c.7789C>T MANE Select	ENSP00000482968.1:p.Leu2597=
ENST00000651434.1:c.896-30027C>T
ENST00000423048.5:c.2620C>T	ENSP00000399833.1:p.Leu874=
ENST00000484298.5:c.7663C>T	ENSP00000478155.1:p.Leu2555=
ENST00000613296.4:c.7789C>T	ENSP00000482968.1:p.Leu2597=
ENST00000614410.4:c.7789C>T	ENSP00000479094.1:p.Leu2597=
ENST00000620466.4:n.1592C>T
NM_015120.4:c.7792C>T , LRG_741t1:c.7792C>T	NP_055935.4:p.Leu2598=
NM_001378454.1:c.7789C>T MANE Select	NP_001365383.1:p.Leu2597=