Canonical Allele Identifier: CA347289961

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573318A>C , CM000664.2:g.73573318A>C	GRCh38
NC_000002.11:g.73800445A>C , CM000664.1:g.73800445A>C	GRCh37
NC_000002.10:g.73653953A>C	NCBI36
NG_011690.1:g.192566A>C , LRG_741:g.192566A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11441A>C MANE Select	NP_001365383.1:p.Asn3814Thr
ENST00000613296.6:c.11441A>C MANE Select	ENSP00000482968.1:p.Asn3814Thr
NM_015120.4:c.11444A>C , LRG_741t1:c.11444A>C	NP_055935.4:p.Asn3815Thr
ENST00000423048.5:c.4932A>C	ENSP00000399833.1:n.4932A>C
ENST00000484298.5:c.11315A>C	ENSP00000478155.1:p.Asn3772Thr
ENST00000613296.4:c.11441A>C	ENSP00000482968.1:p.Asn3814Thr
ENST00000614410.4:c.11441A>C	ENSP00000479094.1:p.Asn3814Thr
ENST00000620466.4:n.5244A>C
ENST00000651057.1:c.1595A>C	ENSP00000498504.1:p.Asn532Thr
ENST00000651434.1:c.2797A>C
ENST00000651750.1:c.829A>C
ENST00000652487.1:c.2538A>C
ENST00000682565.1:c.11060A>C	ENSP00000507671.1:p.Asn3687Thr
ENST00000682801.1:c.11060A>C	ENSP00000507862.1:p.Asn3687Thr
ENST00000682859.1:c.11060A>C	ENSP00000508222.1:p.Asn3687Thr
ENST00000683791.1:c.4146A>C
ENST00000684460.1:c.8341A>C
ENST00000684548.1:c.11060A>C	ENSP00000507421.1:p.Asn3687Thr
ENST00000684590.1:c.5507A>C	ENSP00000507376.1:p.Asn1836Thr
ENST00000684656.1:c.8386A>C