Canonical Allele Identifier: CA1715460

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602184G>T , CM000664.2:g.73602184G>T	GRCh38
NC_000002.11:g.73829311G>T , CM000664.1:g.73829311G>T	GRCh37
NC_000002.10:g.73682819G>T	NCBI36
NG_011690.1:g.221432G>T , LRG_741:g.221432G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12115-1G>T MANE Select	NP_001365383.1:n.12115-1G>T
ENST00000613296.6:c.12115-1G>T MANE Select	ENSP00000482968.1:n.12115-1G>T
NM_015120.4:c.12118-1G>T , LRG_741t1:c.12118-1G>T	NP_055935.4:n.12118-1G>T
ENST00000464408.3:n.290-1G>T
ENST00000484298.5:c.11989-1G>T	ENSP00000478155.1:n.11989-1G>T
ENST00000613296.4:c.12115-1G>T	ENSP00000482968.1:n.12115-1G>T
ENST00000620466.4:n.5918-1G>T
ENST00000651057.1:c.2269-1G>T	ENSP00000498504.1:n.2269-1G>T
ENST00000651434.1:c.3471-1G>T
ENST00000651750.1:c.1261-1G>T
ENST00000652487.1:c.3286-1G>T
ENST00000682565.1:c.11734-1G>T	ENSP00000507671.1:n.11734-1G>T
ENST00000682801.1:c.11167-1G>T	ENSP00000507862.1:n.11167-1G>T
ENST00000682859.1:c.11734-1G>T	ENSP00000508222.1:n.11734-1G>T
ENST00000683791.1:c.4820-1G>T
ENST00000684460.1:c.9015-1G>T
ENST00000684548.1:c.11734-1G>T	ENSP00000507421.1:n.11734-1G>T
ENST00000684590.1:c.6181-1G>T	ENSP00000507376.1:n.6181-1G>T
ENST00000684656.1:c.9199-1G>T