Canonical Allele Identifier: CA427024048

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572506-C-T
• MyVariant Identifiers: chr2:g.73799633C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572506C>T , CM000664.2:g.73572506C>T	GRCh38
NC_000002.11:g.73799633C>T , CM000664.1:g.73799633C>T	GRCh37
NC_000002.10:g.73653141C>T	NCBI36
NG_011690.1:g.191754C>T , LRG_741:g.191754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10248C>T	ENSP00000507671.1:p.Thr3416=
ENST00000682801.1:c.10248C>T	ENSP00000507862.1:p.Thr3416=
ENST00000682859.1:c.10248C>T	ENSP00000508222.1:p.Thr3416=
ENST00000683791.1:c.3334C>T
ENST00000684460.1:c.7529C>T
ENST00000684548.1:c.10248C>T	ENSP00000507421.1:p.Thr3416=
ENST00000684590.1:c.4695C>T	ENSP00000507376.1:p.Thr1565=
ENST00000684656.1:c.7574C>T
ENST00000613296.6:c.10629C>T MANE Select	ENSP00000482968.1:p.Thr3543=
ENST00000651057.1:c.783C>T	ENSP00000498504.1:p.Thr261=
ENST00000651434.1:c.1985C>T
ENST00000651750.1:c.17C>T
ENST00000652487.1:c.1726C>T
ENST00000423048.5:c.4120C>T	ENSP00000399833.1:n.4120C>T
ENST00000484298.5:c.10503C>T	ENSP00000478155.1:p.Thr3501=
ENST00000613296.4:c.10629C>T	ENSP00000482968.1:p.Thr3543=
ENST00000614410.4:c.10629C>T	ENSP00000479094.1:p.Thr3543=
ENST00000620466.4:n.4432C>T
NM_015120.4:c.10632C>T , LRG_741t1:c.10632C>T	NP_055935.4:p.Thr3544=
NM_001378454.1:c.10629C>T MANE Select	NP_001365383.1:p.Thr3543=