Canonical Allele Identifier: CA347280336

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451722C>G , CM000664.2:g.73451722C>G	GRCh38
NC_000002.11:g.73678849C>G , CM000664.1:g.73678849C>G	GRCh37
NC_000002.10:g.73532357C>G	NCBI36
NG_011690.1:g.70970C>G , LRG_741:g.70970C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5195C>G MANE Select	NP_001365383.1:p.Thr1732Ser
ENST00000613296.6:c.5195C>G MANE Select	ENSP00000482968.1:p.Thr1732Ser
NM_015120.4:c.5198C>G , LRG_741t1:c.5198C>G	NP_055935.4:p.Thr1733Ser
ENST00000423048.5:c.26C>G	ENSP00000399833.1:p.Thr9Ser
ENST00000484298.5:c.5069C>G	ENSP00000478155.1:p.Thr1690Ser
ENST00000613296.4:c.5195C>G	ENSP00000482968.1:p.Thr1732Ser
ENST00000614410.4:c.5195C>G	ENSP00000479094.1:p.Thr1732Ser
ENST00000682565.1:c.4814C>G	ENSP00000507671.1:p.Thr1605Ser
ENST00000682801.1:c.4814C>G	ENSP00000507862.1:p.Thr1605Ser
ENST00000682859.1:c.4814C>G	ENSP00000508222.1:p.Thr1605Ser
ENST00000683791.1:c.685+19431C>G
ENST00000684197.1:n.164C>G
ENST00000684460.1:c.2266C>G
ENST00000684548.1:c.4814C>G	ENSP00000507421.1:p.Thr1605Ser
ENST00000684656.1:c.2266C>G