Canonical Allele Identifier: CA427001031

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717255T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490128T>A , CM000664.2:g.73490128T>A	GRCh38
NC_000002.11:g.73717255T>A , CM000664.1:g.73717255T>A	GRCh37
NC_000002.10:g.73570763T>A	NCBI36
NG_011690.1:g.109376T>A , LRG_741:g.109376T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7788T>A	ENSP00000507671.1:p.Ser2596=
ENST00000682801.1:c.7788T>A	ENSP00000507862.1:p.Ser2596=
ENST00000682859.1:c.7788T>A	ENSP00000508222.1:p.Ser2596=
ENST00000683791.1:c.1180T>A
ENST00000684460.1:c.5240T>A
ENST00000684548.1:c.7788T>A	ENSP00000507421.1:p.Ser2596=
ENST00000684590.1:c.2235T>A	ENSP00000507376.1:p.Ser745=
ENST00000684656.1:c.5240T>A
ENST00000613296.6:c.8169T>A MANE Select	ENSP00000482968.1:p.Ser2723=
ENST00000651434.1:c.896-29647T>A
ENST00000423048.5:c.3000T>A	ENSP00000399833.1:p.Ser1000=
ENST00000484298.5:c.8043T>A	ENSP00000478155.1:p.Ser2681=
ENST00000613296.4:c.8169T>A	ENSP00000482968.1:p.Ser2723=
ENST00000614410.4:c.8169T>A	ENSP00000479094.1:p.Ser2723=
ENST00000620466.4:n.1972T>A
NM_015120.4:c.8172T>A , LRG_741t1:c.8172T>A	NP_055935.4:p.Ser2724=
NM_001378454.1:c.8169T>A MANE Select	NP_001365383.1:p.Ser2723=