Canonical Allele Identifier: CA347263224

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599522G>T , CM000664.2:g.73599522G>T	GRCh38
NC_000002.11:g.73826649G>T , CM000664.1:g.73826649G>T	GRCh37
NC_000002.10:g.73680157G>T	NCBI36
NG_011690.1:g.218770G>T , LRG_741:g.218770G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11668+1G>T MANE Select	NP_001365383.1:n.11668+1G>T
ENST00000613296.6:c.11668+1G>T MANE Select	ENSP00000482968.1:n.11668+1G>T
NM_015120.4:c.11671+1G>T , LRG_741t1:c.11671+1G>T	NP_055935.4:n.11671+1G>T
ENST00000484298.5:c.11542+1G>T	ENSP00000478155.1:n.11542+1G>T
ENST00000613296.4:c.11668+1G>T	ENSP00000482968.1:n.11668+1G>T
ENST00000620466.4:n.5471+1G>T
ENST00000651057.1:c.1822+1G>T	ENSP00000498504.1:n.1822+1G>T
ENST00000651434.1:c.3024+1G>T
ENST00000651750.1:c.1056+1G>T
ENST00000652487.1:c.2839+1G>T
ENST00000682565.1:c.11287+1G>T	ENSP00000507671.1:n.11287+1G>T
ENST00000682801.1:c.11167-2663G>T	ENSP00000507862.1:n.11167-2663G>T
ENST00000682859.1:c.11287+1G>T	ENSP00000508222.1:n.11287+1G>T
ENST00000683791.1:c.4373+1G>T
ENST00000684460.1:c.8568+1G>T
ENST00000684548.1:c.11287+1G>T	ENSP00000507421.1:n.11287+1G>T
ENST00000684590.1:c.5734+1G>T	ENSP00000507376.1:n.5734+1G>T
ENST00000684656.1:c.8752+1G>T