Canonical Allele Identifier: CA347272482

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449375G>C , CM000664.2:g.73449375G>C	GRCh38
NC_000002.11:g.73676502G>C , CM000664.1:g.73676502G>C	GRCh37
NC_000002.10:g.73530010G>C	NCBI36
NG_011690.1:g.68623G>C , LRG_741:g.68623G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2848G>C MANE Select	NP_001365383.1:p.Val950Leu
ENST00000613296.6:c.2848G>C MANE Select	ENSP00000482968.1:p.Val950Leu
NM_015120.4:c.2851G>C , LRG_741t1:c.2851G>C	NP_055935.4:p.Val951Leu
ENST00000484298.5:c.2722G>C	ENSP00000478155.1:p.Val908Leu
ENST00000613296.4:c.2848G>C	ENSP00000482968.1:p.Val950Leu
ENST00000614410.4:c.2848G>C	ENSP00000479094.1:p.Val950Leu
ENST00000682565.1:c.2467G>C	ENSP00000507671.1:p.Val823Leu
ENST00000682801.1:c.2467G>C	ENSP00000507862.1:p.Val823Leu
ENST00000682859.1:c.2467G>C	ENSP00000508222.1:p.Val823Leu
ENST00000683791.1:c.685+17084G>C
ENST00000684548.1:c.2467G>C	ENSP00000507421.1:p.Val823Leu