Canonical Allele Identifier: CA347266529

Gene: ALMS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11644C>A	ENSP00000507671.1:p.Gln3882Lys
ENST00000682801.1:c.11167-838C>A	ENSP00000507862.1:n.11167-838C>A
ENST00000682859.1:c.11644C>A	ENSP00000508222.1:p.Gln3882Lys
ENST00000683791.1:c.4730C>A
ENST00000684460.1:c.8925C>A
ENST00000684548.1:c.11644C>A	ENSP00000507421.1:p.Gln3882Lys
ENST00000684590.1:c.6091C>A	ENSP00000507376.1:p.Gln2031Lys
ENST00000684656.1:c.9109C>A
ENST00000613296.6:c.12025C>A MANE Select	ENSP00000482968.1:p.Gln4009Lys
ENST00000651057.1:c.2179C>A	ENSP00000498504.1:p.Gln727Lys
ENST00000651434.1:c.3381C>A
ENST00000651750.1:c.1260+466C>A
ENST00000652487.1:c.3196C>A
ENST00000464408.3:n.200C>A
ENST00000484298.5:c.11899C>A	ENSP00000478155.1:p.Gln3967Lys
ENST00000613296.4:c.12025C>A	ENSP00000482968.1:p.Gln4009Lys
ENST00000620466.4:n.5828C>A
NM_015120.4:c.12028C>A , LRG_741t1:c.12028C>A	NP_055935.4:p.Gln4010Lys
NM_001378454.1:c.12025C>A MANE Select	NP_001365383.1:p.Gln4009Lys