Canonical Allele Identifier: CA347266611

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828483G>T (hg19) ; chr2:g.73601356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601356G>T , CM000664.2:g.73601356G>T	GRCh38
NC_000002.11:g.73828483G>T , CM000664.1:g.73828483G>T	GRCh37
NC_000002.10:g.73681991G>T	NCBI36
NG_011690.1:g.220604G>T , LRG_741:g.220604G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11653G>T	ENSP00000507671.1:p.Asp3885Tyr
ENST00000682801.1:c.11167-829G>T	ENSP00000507862.1:n.11167-829G>T
ENST00000682859.1:c.11653G>T	ENSP00000508222.1:p.Asp3885Tyr
ENST00000683791.1:c.4739G>T
ENST00000684460.1:c.8934G>T
ENST00000684548.1:c.11653G>T	ENSP00000507421.1:p.Asp3885Tyr
ENST00000684590.1:c.6100G>T	ENSP00000507376.1:p.Asp2034Tyr
ENST00000684656.1:c.9118G>T
ENST00000613296.6:c.12034G>T MANE Select	ENSP00000482968.1:p.Asp4012Tyr
ENST00000651057.1:c.2188G>T	ENSP00000498504.1:p.Asp730Tyr
ENST00000651434.1:c.3390G>T
ENST00000651750.1:c.1260+475G>T
ENST00000652487.1:c.3205G>T
ENST00000464408.3:n.209G>T
ENST00000484298.5:c.11908G>T	ENSP00000478155.1:p.Asp3970Tyr
ENST00000613296.4:c.12034G>T	ENSP00000482968.1:p.Asp4012Tyr
ENST00000620466.4:n.5837G>T
NM_015120.4:c.12037G>T , LRG_741t1:c.12037G>T	NP_055935.4:p.Asp4013Tyr
NM_001378454.1:c.12034G>T MANE Select	NP_001365383.1:p.Asp4012Tyr