Canonical Allele Identifier: CA2577095565

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519713G>C , CM000664.2:g.73519713G>C	GRCh38
NC_000002.11:g.73746840G>C , CM000664.1:g.73746840G>C	GRCh37
NC_000002.10:g.73600348G>C	NCBI36
NG_011690.1:g.138961G>C , LRG_741:g.138961G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.9159-62G>C	ENSP00000507671.1:n.9159-62G>C
ENST00000682801.1:c.9159-62G>C	ENSP00000507862.1:n.9159-62G>C
ENST00000682859.1:c.9159-62G>C	ENSP00000508222.1:n.9159-62G>C
ENST00000683791.1:c.2551-62G>C
ENST00000684460.1:c.6611-62G>C
ENST00000684548.1:c.9159-62G>C	ENSP00000507421.1:n.9159-62G>C
ENST00000684590.1:c.3606-62G>C	ENSP00000507376.1:n.3606-62G>C
ENST00000684656.1:c.6611-62G>C
ENST00000613296.6:c.9540-62G>C MANE Select	ENSP00000482968.1:n.9540-62G>C
ENST00000651434.1:c.896-62G>C
ENST00000652487.1:c.637-62G>C
ENST00000423048.5:c.3031-62G>C	ENSP00000399833.1:n.3031-62G>C
ENST00000484298.5:c.9414-62G>C	ENSP00000478155.1:n.9414-62G>C
ENST00000613296.4:c.9540-62G>C	ENSP00000482968.1:n.9540-62G>C
ENST00000614410.4:c.9540-62G>C	ENSP00000479094.1:n.9540-62G>C
ENST00000620466.4:n.3343-62G>C
NM_015120.4:c.9543-62G>C , LRG_741t1:c.9543-62G>C	NP_055935.4:n.9543-62G>C
NM_001378454.1:c.9540-62G>C MANE Select	NP_001365383.1:n.9540-62G>C