Canonical Allele Identifier: CA347276224

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677336A>C (hg19) ; chr2:g.73450209A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450209A>C , CM000664.2:g.73450209A>C	GRCh38
NC_000002.11:g.73677336A>C , CM000664.1:g.73677336A>C	GRCh37
NC_000002.10:g.73530844A>C	NCBI36
NG_011690.1:g.69457A>C , LRG_741:g.69457A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.3301A>C	ENSP00000507671.1:p.Lys1101Gln
ENST00000682801.1:c.3301A>C	ENSP00000507862.1:p.Lys1101Gln
ENST00000682859.1:c.3301A>C	ENSP00000508222.1:p.Lys1101Gln
ENST00000683791.1:c.685+17918A>C
ENST00000684460.1:c.753A>C
ENST00000684548.1:c.3301A>C	ENSP00000507421.1:p.Lys1101Gln
ENST00000684656.1:c.753A>C
ENST00000613296.6:c.3682A>C MANE Select	ENSP00000482968.1:p.Lys1228Gln
ENST00000484298.5:c.3556A>C	ENSP00000478155.1:p.Lys1186Gln
ENST00000613296.4:c.3682A>C	ENSP00000482968.1:p.Lys1228Gln
ENST00000614410.4:c.3682A>C	ENSP00000479094.1:p.Lys1228Gln
NM_015120.4:c.3685A>C , LRG_741t1:c.3685A>C	NP_055935.4:p.Lys1229Gln
NM_001378454.1:c.3682A>C MANE Select	NP_001365383.1:p.Lys1228Gln