Canonical Allele Identifier: CA347267248

Gene: ALMS1

Linked Data

• dbSNP Id: rs368472562
• MyVariant Identifiers: chr2:g.73828556C>G (hg19) ; chr2:g.73601429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601429C>G , CM000664.2:g.73601429C>G	GRCh38
NC_000002.11:g.73828556C>G , CM000664.1:g.73828556C>G	GRCh37
NC_000002.10:g.73682064C>G	NCBI36
NG_011690.1:g.220677C>G , LRG_741:g.220677C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11726C>G	ENSP00000507671.1:p.Thr3909Ser
ENST00000682801.1:c.11167-756C>G	ENSP00000507862.1:n.11167-756C>G
ENST00000682859.1:c.11726C>G	ENSP00000508222.1:p.Thr3909Ser
ENST00000683791.1:c.4812C>G
ENST00000684460.1:c.9007C>G
ENST00000684548.1:c.11726C>G	ENSP00000507421.1:p.Thr3909Ser
ENST00000684590.1:c.6173C>G	ENSP00000507376.1:p.Thr2058Ser
ENST00000684656.1:c.9191C>G
ENST00000613296.6:c.12107C>G MANE Select	ENSP00000482968.1:p.Thr4036Ser
ENST00000651057.1:c.2261C>G	ENSP00000498504.1:p.Thr754Ser
ENST00000651434.1:c.3463C>G
ENST00000651750.1:c.1260+548C>G
ENST00000652487.1:c.3278C>G
ENST00000464408.3:n.282C>G
ENST00000484298.5:c.11981C>G	ENSP00000478155.1:p.Thr3994Ser
ENST00000613296.4:c.12107C>G	ENSP00000482968.1:p.Thr4036Ser
ENST00000620466.4:n.5910C>G
NM_015120.4:c.12110C>G , LRG_741t1:c.12110C>G	NP_055935.4:p.Thr4037Ser
NM_001378454.1:c.12107C>G MANE Select	NP_001365383.1:p.Thr4036Ser