Canonical Allele Identifier: CA347266532

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828474C>G (hg19) ; chr2:g.73601347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601347C>G , CM000664.2:g.73601347C>G	GRCh38
NC_000002.11:g.73828474C>G , CM000664.1:g.73828474C>G	GRCh37
NC_000002.10:g.73681982C>G	NCBI36
NG_011690.1:g.220595C>G , LRG_741:g.220595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11644C>G	ENSP00000507671.1:p.Gln3882Glu
ENST00000682801.1:c.11167-838C>G	ENSP00000507862.1:n.11167-838C>G
ENST00000682859.1:c.11644C>G	ENSP00000508222.1:p.Gln3882Glu
ENST00000683791.1:c.4730C>G
ENST00000684460.1:c.8925C>G
ENST00000684548.1:c.11644C>G	ENSP00000507421.1:p.Gln3882Glu
ENST00000684590.1:c.6091C>G	ENSP00000507376.1:p.Gln2031Glu
ENST00000684656.1:c.9109C>G
ENST00000613296.6:c.12025C>G MANE Select	ENSP00000482968.1:p.Gln4009Glu
ENST00000651057.1:c.2179C>G	ENSP00000498504.1:p.Gln727Glu
ENST00000651434.1:c.3381C>G
ENST00000651750.1:c.1260+466C>G
ENST00000652487.1:c.3196C>G
ENST00000464408.3:n.200C>G
ENST00000484298.5:c.11899C>G	ENSP00000478155.1:p.Gln3967Glu
ENST00000613296.4:c.12025C>G	ENSP00000482968.1:p.Gln4009Glu
ENST00000620466.4:n.5828C>G
NM_015120.4:c.12028C>G , LRG_741t1:c.12028C>G	NP_055935.4:p.Gln4010Glu
NM_001378454.1:c.12025C>G MANE Select	NP_001365383.1:p.Gln4009Glu