Canonical Allele Identifier: CA1713351

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448993A>G , CM000664.2:g.73448993A>G	GRCh38
NC_000002.11:g.73676120A>G , CM000664.1:g.73676120A>G	GRCh37
NC_000002.10:g.73529628A>G	NCBI36
NG_011690.1:g.68241A>G , LRG_741:g.68241A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2466A>G MANE Select	NP_001365383.1:p.Gln822=
ENST00000613296.6:c.2466A>G MANE Select	ENSP00000482968.1:p.Gln822=
NM_015120.4:c.2469A>G , LRG_741t1:c.2469A>G	NP_055935.4:p.Gln823=
ENST00000484298.5:c.2340A>G	ENSP00000478155.1:p.Gln780=
ENST00000613296.4:c.2466A>G	ENSP00000482968.1:p.Gln822=
ENST00000614410.4:c.2466A>G	ENSP00000479094.1:p.Gln822=
ENST00000682565.1:c.2085A>G	ENSP00000507671.1:p.Gln695=
ENST00000682801.1:c.2085A>G	ENSP00000507862.1:p.Gln695=
ENST00000682859.1:c.2085A>G	ENSP00000508222.1:p.Gln695=
ENST00000683791.1:c.685+16702A>G
ENST00000684548.1:c.2085A>G	ENSP00000507421.1:p.Gln695=