Canonical Allele Identifier: CA1714252

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73454068G>T , CM000664.2:g.73454068G>T	GRCh38
NC_000002.11:g.73681195G>T , CM000664.1:g.73681195G>T	GRCh37
NC_000002.10:g.73534703G>T	NCBI36
NG_011690.1:g.73316G>T , LRG_741:g.73316G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7540+1G>T MANE Select	NP_001365383.1:n.7540+1G>T
ENST00000613296.6:c.7540+1G>T MANE Select	ENSP00000482968.1:n.7540+1G>T
NM_015120.4:c.7543+1G>T , LRG_741t1:c.7543+1G>T	NP_055935.4:n.7543+1G>T
ENST00000423048.5:c.2371+1G>T	ENSP00000399833.1:n.2371+1G>T
ENST00000484298.5:c.7414+1G>T	ENSP00000478155.1:n.7414+1G>T
ENST00000613296.4:c.7540+1G>T	ENSP00000482968.1:n.7540+1G>T
ENST00000614410.4:c.7540+1G>T	ENSP00000479094.1:n.7540+1G>T
ENST00000620466.4:n.1343+1G>T
ENST00000651434.1:c.761+1G>T
ENST00000682565.1:c.7159+1G>T	ENSP00000507671.1:n.7159+1G>T
ENST00000682801.1:c.7159+1G>T	ENSP00000507862.1:n.7159+1G>T
ENST00000682859.1:c.7159+1G>T	ENSP00000508222.1:n.7159+1G>T
ENST00000683791.1:c.685+21777G>T
ENST00000684197.1:n.2509+1G>T
ENST00000684460.1:c.4611+1G>T
ENST00000684548.1:c.7159+1G>T	ENSP00000507421.1:n.7159+1G>T
ENST00000684590.1:c.1657+1G>T	ENSP00000507376.1:n.1657+1G>T
ENST00000684656.1:c.4611+1G>T