Canonical Allele Identifier: CA1713883

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 241002
• ClinVar RCV Id: RCV000233437 ; RCV000428195 ; RCV000445537 ; RCV001795371 ; RCV002347903
• dbSNP Id: rs78039319
• ExAC: 2:73679087 G / C
• gnomAD v2: 2-73679087-G-C
• gnomAD v3: 2-73451960-G-C
• gnomAD v4: 2-73451960-G-C
• MyVariant Identifiers: chr2:g.73679087G>C (hg19) ; chr2:g.73451960G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451960G>C , CM000664.2:g.73451960G>C	GRCh38
NC_000002.11:g.73679087G>C , CM000664.1:g.73679087G>C	GRCh37
NC_000002.10:g.73532595G>C	NCBI36
NG_011690.1:g.71208G>C , LRG_741:g.71208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.5052G>C	ENSP00000507671.1:p.Lys1684Asn
ENST00000682801.1:c.5052G>C	ENSP00000507862.1:p.Lys1684Asn
ENST00000682859.1:c.5052G>C	ENSP00000508222.1:p.Lys1684Asn
ENST00000683791.1:c.685+19669G>C
ENST00000684197.1:n.402G>C
ENST00000684460.1:c.2504G>C
ENST00000684548.1:c.5052G>C	ENSP00000507421.1:p.Lys1684Asn
ENST00000684656.1:c.2504G>C
ENST00000613296.6:c.5433G>C MANE Select	ENSP00000482968.1:p.Lys1811Asn
ENST00000423048.5:c.264G>C	ENSP00000399833.1:p.Lys88Asn
ENST00000484298.5:c.5307G>C	ENSP00000478155.1:p.Lys1769Asn
ENST00000613296.4:c.5433G>C	ENSP00000482968.1:p.Lys1811Asn
ENST00000614410.4:c.5433G>C	ENSP00000479094.1:p.Lys1811Asn
NM_015120.4:c.5436G>C , LRG_741t1:c.5436G>C	NP_055935.4:p.Lys1812Asn
NM_001378454.1:c.5433G>C MANE Select	NP_001365383.1:p.Lys1811Asn