Canonical Allele Identifier: CA427000944

Gene: ALMS1

Linked Data

• dbSNP Id: rs1572969339
• MyVariant Identifiers: chr2:g.73717228C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490101C>G , CM000664.2:g.73490101C>G	GRCh38
NC_000002.11:g.73717228C>G , CM000664.1:g.73717228C>G	GRCh37
NC_000002.10:g.73570736C>G	NCBI36
NG_011690.1:g.109349C>G , LRG_741:g.109349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7761C>G	ENSP00000507671.1:p.Ser2587=
ENST00000682801.1:c.7761C>G	ENSP00000507862.1:p.Ser2587=
ENST00000682859.1:c.7761C>G	ENSP00000508222.1:p.Ser2587=
ENST00000683791.1:c.1153C>G
ENST00000684460.1:c.5213C>G
ENST00000684548.1:c.7761C>G	ENSP00000507421.1:p.Ser2587=
ENST00000684590.1:c.2208C>G	ENSP00000507376.1:p.Ser736=
ENST00000684656.1:c.5213C>G
ENST00000613296.6:c.8142C>G MANE Select	ENSP00000482968.1:p.Ser2714=
ENST00000651434.1:c.896-29674C>G
ENST00000423048.5:c.2973C>G	ENSP00000399833.1:p.Ser991=
ENST00000484298.5:c.8016C>G	ENSP00000478155.1:p.Ser2672=
ENST00000613296.4:c.8142C>G	ENSP00000482968.1:p.Ser2714=
ENST00000614410.4:c.8142C>G	ENSP00000479094.1:p.Ser2714=
ENST00000620466.4:n.1945C>G
NM_015120.4:c.8145C>G , LRG_741t1:c.8145C>G	NP_055935.4:p.Ser2715=
NM_001378454.1:c.8142C>G MANE Select	NP_001365383.1:p.Ser2714=