Canonical Allele Identifier: CA1310219

Gene: ASPM

Linked Data

• ClinVar Variation Id: 513849
• ClinVar RCV Id: RCV000606778 ; RCV000941595 ; RCV001096774 ; RCV002528549
• dbSNP Id: rs139317695
• ExAC: 1:197093401 T / G
• gnomAD v2: 1-197093401-T-G
• gnomAD v3: 1-197124271-T-G
• gnomAD v4: 1-197124271-T-G
• MyVariant Identifiers: chr1:g.197093401T>G (hg19) ; chr1:g.197124271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124271T>G , CM000663.2:g.197124271T>G	GRCh38
NC_000001.10:g.197093401T>G , CM000663.1:g.197093401T>G	GRCh37
NC_000001.9:g.195360024T>G	NCBI36
NG_015867.1:g.27424A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1271A>C
ENST00000367409.9:c.3229A>C MANE Select	ENSP00000356379.4:p.Lys1077Gln
ENST00000680112.1:n.1285A>C
ENST00000680265.1:c.3229A>C	ENSP00000505384.1:p.Lys1077Gln
ENST00000680710.1:c.3229A>C	ENSP00000506676.1:p.Lys1077Gln
ENST00000681879.1:c.3229A>C	ENSP00000505363.1:p.Lys1077Gln
ENST00000294732.11:c.3229A>C	ENSP00000294732.7:p.Lys1077Gln
ENST00000367408.5:c.979A>C	ENSP00000356378.1:p.Lys327Gln
ENST00000367409.8:c.3229A>C	ENSP00000356379.4:p.Lys1077Gln
ENST00000612785.1:c.561+19420A>C	ENSP00000479244.1:n.561+19420A>C
NM_001206846.1:c.3229A>C	NP_001193775.1:p.Lys1077Gln
NM_018136.4:c.3229A>C	NP_060606.3:p.Lys1077Gln
NM_018136.5:c.3229A>C MANE Select	NP_060606.3:p.Lys1077Gln
NM_001206846.2:c.3229A>C	NP_001193775.1:p.Lys1077Gln