Canonical Allele Identifier: CA427000743

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 752144
• ClinVar RCV Id: RCV001440891
• dbSNP Id: rs754078506
• gnomAD v4: 2-73489990-C-T
• MyVariant Identifiers: chr2:g.73717117C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489990C>T , CM000664.2:g.73489990C>T	GRCh38
NC_000002.11:g.73717117C>T , CM000664.1:g.73717117C>T	GRCh37
NC_000002.10:g.73570625C>T	NCBI36
NG_011690.1:g.109238C>T , LRG_741:g.109238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7650C>T	ENSP00000507671.1:p.Asp2550=
ENST00000682801.1:c.7650C>T	ENSP00000507862.1:p.Asp2550=
ENST00000682859.1:c.7650C>T	ENSP00000508222.1:p.Asp2550=
ENST00000683791.1:c.1042C>T
ENST00000684460.1:c.5102C>T
ENST00000684548.1:c.7650C>T	ENSP00000507421.1:p.Asp2550=
ENST00000684590.1:c.2097C>T	ENSP00000507376.1:p.Asp699=
ENST00000684656.1:c.5102C>T
ENST00000613296.6:c.8031C>T MANE Select	ENSP00000482968.1:p.Asp2677=
ENST00000651434.1:c.896-29785C>T
ENST00000423048.5:c.2862C>T	ENSP00000399833.1:p.Asp954=
ENST00000484298.5:c.7905C>T	ENSP00000478155.1:p.Asp2635=
ENST00000613296.4:c.8031C>T	ENSP00000482968.1:p.Asp2677=
ENST00000614410.4:c.8031C>T	ENSP00000479094.1:p.Asp2677=
ENST00000620466.4:n.1834C>T
NM_015120.4:c.8034C>T , LRG_741t1:c.8034C>T	NP_055935.4:p.Asp2678=
NM_001378454.1:c.8031C>T MANE Select	NP_001365383.1:p.Asp2677=