Canonical Allele Identifier: CA427000719

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489939-T-C
• MyVariant Identifiers: chr2:g.73717066T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489939T>C , CM000664.2:g.73489939T>C	GRCh38
NC_000002.11:g.73717066T>C , CM000664.1:g.73717066T>C	GRCh37
NC_000002.10:g.73570574T>C	NCBI36
NG_011690.1:g.109187T>C , LRG_741:g.109187T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7599T>C	ENSP00000507671.1:p.Asp2533=
ENST00000682801.1:c.7599T>C	ENSP00000507862.1:p.Asp2533=
ENST00000682859.1:c.7599T>C	ENSP00000508222.1:p.Asp2533=
ENST00000683791.1:c.991T>C
ENST00000684460.1:c.5051T>C
ENST00000684548.1:c.7599T>C	ENSP00000507421.1:p.Asp2533=
ENST00000684590.1:c.2046T>C	ENSP00000507376.1:p.Asp682=
ENST00000684656.1:c.5051T>C
ENST00000613296.6:c.7980T>C MANE Select	ENSP00000482968.1:p.Asp2660=
ENST00000651434.1:c.896-29836T>C
ENST00000423048.5:c.2811T>C	ENSP00000399833.1:p.Asp937=
ENST00000484298.5:c.7854T>C	ENSP00000478155.1:p.Asp2618=
ENST00000613296.4:c.7980T>C	ENSP00000482968.1:p.Asp2660=
ENST00000614410.4:c.7980T>C	ENSP00000479094.1:p.Asp2660=
ENST00000620466.4:n.1783T>C
NM_015120.4:c.7983T>C , LRG_741t1:c.7983T>C	NP_055935.4:p.Asp2661=
NM_001378454.1:c.7980T>C MANE Select	NP_001365383.1:p.Asp2660=