Canonical Allele Identifier: CA427020159

Gene: ALMS1

Linked Data

• gnomAD v3: 2-73450133-T-C
• gnomAD v4: 2-73450133-T-C
• MyVariant Identifiers: chr2:g.73677260T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450133T>C , CM000664.2:g.73450133T>C	GRCh38
NC_000002.11:g.73677260T>C , CM000664.1:g.73677260T>C	GRCh37
NC_000002.10:g.73530768T>C	NCBI36
NG_011690.1:g.69381T>C , LRG_741:g.69381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3225T>C	ENSP00000507671.1:p.Tyr1075=
ENST00000682801.1:c.3225T>C	ENSP00000507862.1:p.Tyr1075=
ENST00000682859.1:c.3225T>C	ENSP00000508222.1:p.Tyr1075=
ENST00000683791.1:c.685+17842T>C
ENST00000684460.1:c.677T>C
ENST00000684548.1:c.3225T>C	ENSP00000507421.1:p.Tyr1075=
ENST00000684656.1:c.677T>C
ENST00000613296.6:c.3606T>C MANE Select	ENSP00000482968.1:p.Tyr1202=
ENST00000484298.5:c.3480T>C	ENSP00000478155.1:p.Tyr1160=
ENST00000613296.4:c.3606T>C	ENSP00000482968.1:p.Tyr1202=
ENST00000614410.4:c.3606T>C	ENSP00000479094.1:p.Tyr1202=
NM_015120.4:c.3609T>C , LRG_741t1:c.3609T>C	NP_055935.4:p.Tyr1203=
NM_001378454.1:c.3606T>C MANE Select	NP_001365383.1:p.Tyr1202=