Canonical Allele Identifier: CA123069

Gene: PSAP

Linked Data

• ClinVar Variation Id: 13372
• ClinVar RCV Id: RCV000014301 ; RCV003317034
• dbSNP Id: rs121918110
• MyVariant Identifiers: chr10:g.73579617A>G (hg19) ; chr10:g.71819860A>G (hg38)
• PubMed: PMID:17919309

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819860A>G , CM000672.2:g.71819860A>G	GRCh38
NC_000010.10:g.73579617A>G , CM000672.1:g.73579617A>G	GRCh37
NC_000010.9:g.73249623A>G	NCBI36
NG_009301.1:g.36466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1046T>C MANE Select	ENSP00000378394.3:p.Leu349Pro
ENST00000394934.4:c.1055T>C	ENSP00000378392.2:p.Leu352Pro
ENST00000394936.7:c.1046T>C	ENSP00000378394.3:p.Leu349Pro
ENST00000493143.1:n.467T>C
ENST00000610929.3:c.271-77T>C	ENSP00000480857.1:n.271-77T>C
ENST00000633965.1:c.456T>C
NM_001042465.1:c.1055T>C	NP_001035930.1:p.Leu352Pro
NM_001042466.1:c.1052T>C	NP_001035931.1:p.Leu351Pro
NM_002778.2:c.1046T>C	NP_002769.1:p.Leu349Pro
NM_001042465.2:c.1055T>C	NP_001035930.1:p.Leu352Pro
NM_001042466.2:c.1052T>C	NP_001035931.1:p.Leu351Pro
NM_002778.3:c.1046T>C	NP_002769.1:p.Leu349Pro
NM_002778.4:c.1046T>C MANE Select	NP_002769.1:p.Leu349Pro
NM_001042465.3:c.1055T>C	NP_001035930.1:p.Leu352Pro
NM_001042466.3:c.1052T>C	NP_001035931.1:p.Leu351Pro