Canonical Allele Identifier: CA347264064
Gene: ALMS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73489746A>T , CM000664.2:g.73489746A>T GRCh38
NC_000002.11:g.73716873A>T , CM000664.1:g.73716873A>T GRCh37
NC_000002.10:g.73570381A>T NCBI36
NG_011690.1:g.108994A>T , LRG_741:g.108994A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7406A>T ENSP00000507671.1:p.Gln2469Leu
ENST00000682801.1:c.7406A>T ENSP00000507862.1:p.Gln2469Leu
ENST00000682859.1:c.7406A>T ENSP00000508222.1:p.Gln2469Leu
ENST00000683791.1:c.798A>T
ENST00000684460.1:c.4858A>T
ENST00000684548.1:c.7406A>T ENSP00000507421.1:p.Gln2469Leu
ENST00000684590.1:c.1853A>T ENSP00000507376.1:p.Gln618Leu
ENST00000684656.1:c.4858A>T
ENST00000613296.6:c.7787A>T MANE Select ENSP00000482968.1:p.Gln2596Leu
ENST00000651434.1:c.896-30029A>T
ENST00000423048.5:c.2618A>T ENSP00000399833.1:p.Gln873Leu
ENST00000484298.5:c.7661A>T ENSP00000478155.1:p.Gln2554Leu
ENST00000613296.4:c.7787A>T ENSP00000482968.1:p.Gln2596Leu
ENST00000614410.4:c.7787A>T ENSP00000479094.1:p.Gln2596Leu
ENST00000620466.4:n.1590A>T
NM_015120.4:c.7790A>T , LRG_741t1:c.7790A>T NP_055935.4:p.Gln2597Leu
NM_001378454.1:c.7787A>T MANE Select NP_001365383.1:p.Gln2596Leu