Canonical Allele Identifier: CA347264006

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716843G>C (hg19) ; chr2:g.73489716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489716G>C , CM000664.2:g.73489716G>C	GRCh38
NC_000002.11:g.73716843G>C , CM000664.1:g.73716843G>C	GRCh37
NC_000002.10:g.73570351G>C	NCBI36
NG_011690.1:g.108964G>C , LRG_741:g.108964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7376G>C	ENSP00000507671.1:p.Cys2459Ser
ENST00000682801.1:c.7376G>C	ENSP00000507862.1:p.Cys2459Ser
ENST00000682859.1:c.7376G>C	ENSP00000508222.1:p.Cys2459Ser
ENST00000683791.1:c.768G>C
ENST00000684460.1:c.4828G>C
ENST00000684548.1:c.7376G>C	ENSP00000507421.1:p.Cys2459Ser
ENST00000684590.1:c.1823G>C	ENSP00000507376.1:p.Cys608Ser
ENST00000684656.1:c.4828G>C
ENST00000613296.6:c.7757G>C MANE Select	ENSP00000482968.1:p.Cys2586Ser
ENST00000651434.1:c.896-30059G>C
ENST00000423048.5:c.2588G>C	ENSP00000399833.1:p.Cys863Ser
ENST00000484298.5:c.7631G>C	ENSP00000478155.1:p.Cys2544Ser
ENST00000613296.4:c.7757G>C	ENSP00000482968.1:p.Cys2586Ser
ENST00000614410.4:c.7757G>C	ENSP00000479094.1:p.Cys2586Ser
ENST00000620466.4:n.1560G>C
NM_015120.4:c.7760G>C , LRG_741t1:c.7760G>C	NP_055935.4:p.Cys2587Ser
NM_001378454.1:c.7757G>C MANE Select	NP_001365383.1:p.Cys2586Ser