Canonical Allele Identifier: CA1715601

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73609554C>G , CM000664.2:g.73609554C>G	GRCh38
NC_000002.11:g.73836681C>G , CM000664.1:g.73836681C>G	GRCh37
NC_000002.10:g.73690189C>G	NCBI36
NG_011690.1:g.228802C>G , LRG_741:g.228802C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12463-14C>G MANE Select	NP_001365383.1:n.12463-14C>G
ENST00000613296.6:c.12463-14C>G MANE Select	ENSP00000482968.1:n.12463-14C>G
NM_015120.4:c.12466-14C>G , LRG_741t1:c.12466-14C>G	NP_055935.4:n.12466-14C>G
ENST00000484298.5:c.12337-14C>G	ENSP00000478155.1:n.12337-14C>G
ENST00000490821.1:n.107-14C>G
ENST00000613296.4:c.12463-14C>G	ENSP00000482968.1:n.12463-14C>G
ENST00000651057.1:c.2617-14C>G	ENSP00000498504.1:n.2617-14C>G
ENST00000651434.1:c.3819-14C>G
ENST00000651750.1:c.1609-14C>G
ENST00000652487.1:c.3634-14C>G
ENST00000682565.1:c.12160-14C>G	ENSP00000507671.1:n.12160-14C>G
ENST00000682801.1:c.11515-14C>G	ENSP00000507862.1:n.11515-14C>G
ENST00000682859.1:c.12082-14C>G	ENSP00000508222.1:n.12082-14C>G
ENST00000683108.1:n.205-16C>G
ENST00000683147.1:n.3542-14C>G
ENST00000683791.1:c.5168-14C>G
ENST00000684460.1:c.9363-14C>G
ENST00000684548.1:c.12082-16C>G	ENSP00000507421.1:n.12082-16C>G
ENST00000684590.1:c.6529-14C>G	ENSP00000507376.1:n.6529-14C>G
ENST00000684656.1:c.9547-14C>G