Canonical Allele Identifier: CA347283439

Gene: ALMS1

Linked Data

• dbSNP Id: rs2104104105
• gnomAD v4: 2-73572409-G-A
• MyVariant Identifiers: chr2:g.73799536G>A (hg19) ; chr2:g.73572409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572409G>A , CM000664.2:g.73572409G>A	GRCh38
NC_000002.11:g.73799536G>A , CM000664.1:g.73799536G>A	GRCh37
NC_000002.10:g.73653044G>A	NCBI36
NG_011690.1:g.191657G>A , LRG_741:g.191657G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10151G>A	ENSP00000507671.1:p.Trp3384Ter
ENST00000682801.1:c.10151G>A	ENSP00000507862.1:p.Trp3384Ter
ENST00000682859.1:c.10151G>A	ENSP00000508222.1:p.Trp3384Ter
ENST00000683791.1:c.3237G>A
ENST00000684460.1:c.7432G>A
ENST00000684548.1:c.10151G>A	ENSP00000507421.1:p.Trp3384Ter
ENST00000684590.1:c.4598G>A	ENSP00000507376.1:p.Trp1533Ter
ENST00000684656.1:c.7477G>A
ENST00000613296.6:c.10532G>A MANE Select	ENSP00000482968.1:p.Trp3511Ter
ENST00000651057.1:c.686G>A	ENSP00000498504.1:p.Trp229Ter
ENST00000651434.1:c.1888G>A
ENST00000652487.1:c.1629G>A
ENST00000423048.5:c.4023G>A	ENSP00000399833.1:n.4023G>A
ENST00000484298.5:c.10406G>A	ENSP00000478155.1:p.Trp3469Ter
ENST00000613296.4:c.10532G>A	ENSP00000482968.1:p.Trp3511Ter
ENST00000614410.4:c.10532G>A	ENSP00000479094.1:p.Trp3511Ter
ENST00000620466.4:n.4335G>A
NM_015120.4:c.10535G>A , LRG_741t1:c.10535G>A	NP_055935.4:p.Trp3512Ter
NM_001378454.1:c.10532G>A MANE Select	NP_001365383.1:p.Trp3511Ter