Canonical Allele Identifier: CA347284968

Gene: ALMS1

Linked Data

• dbSNP Id: rs1341442075
• gnomAD v2: 2-73799709-G-A
• gnomAD v4: 2-73572582-G-A
• MyVariant Identifiers: chr2:g.73799709G>A (hg19) ; chr2:g.73572582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572582G>A , CM000664.2:g.73572582G>A	GRCh38
NC_000002.11:g.73799709G>A , CM000664.1:g.73799709G>A	GRCh37
NC_000002.10:g.73653217G>A	NCBI36
NG_011690.1:g.191830G>A , LRG_741:g.191830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10324G>A	ENSP00000507671.1:p.Asp3442Asn
ENST00000682801.1:c.10324G>A	ENSP00000507862.1:p.Asp3442Asn
ENST00000682859.1:c.10324G>A	ENSP00000508222.1:p.Asp3442Asn
ENST00000683791.1:c.3410G>A
ENST00000684460.1:c.7605G>A
ENST00000684548.1:c.10324G>A	ENSP00000507421.1:p.Asp3442Asn
ENST00000684590.1:c.4771G>A	ENSP00000507376.1:p.Asp1591Asn
ENST00000684656.1:c.7650G>A
ENST00000613296.6:c.10705G>A MANE Select	ENSP00000482968.1:p.Asp3569Asn
ENST00000651057.1:c.859G>A	ENSP00000498504.1:p.Asp287Asn
ENST00000651434.1:c.2061G>A
ENST00000651750.1:c.93G>A
ENST00000652487.1:c.1802G>A
ENST00000423048.5:c.4196G>A	ENSP00000399833.1:n.4196G>A
ENST00000484298.5:c.10579G>A	ENSP00000478155.1:p.Asp3527Asn
ENST00000613296.4:c.10705G>A	ENSP00000482968.1:p.Asp3569Asn
ENST00000614410.4:c.10705G>A	ENSP00000479094.1:p.Asp3569Asn
ENST00000620466.4:n.4508G>A
NM_015120.4:c.10708G>A , LRG_741t1:c.10708G>A	NP_055935.4:p.Asp3570Asn
NM_001378454.1:c.10705G>A MANE Select	NP_001365383.1:p.Asp3569Asn