Canonical Allele Identifier: CA422672485

Gene: ASPM

Linked Data

• gnomAD v4: 1-197091021-T-C
• MyVariant Identifiers: chr1:g.197060151T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091021T>C , CM000663.2:g.197091021T>C	GRCh38
NC_000001.10:g.197060151T>C , CM000663.1:g.197060151T>C	GRCh37
NC_000001.9:g.195326774T>C	NCBI36
NG_015867.1:g.60674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2752A>G
ENST00000367409.9:c.9465A>G MANE Select	ENSP00000356379.4:p.Leu3155=
ENST00000680265.1:c.9687A>G	ENSP00000505384.1:p.Leu3229=
ENST00000680710.1:c.9441A>G	ENSP00000506676.1:p.Leu3147=
ENST00000294732.11:c.4710A>G	ENSP00000294732.7:p.Leu1570=
ENST00000367408.5:c.2460A>G	ENSP00000356378.1:p.Leu820=
ENST00000367409.8:c.9465A>G	ENSP00000356379.4:p.Leu3155=
ENST00000612785.1:c.3423A>G	ENSP00000479244.1:p.Leu1141=
NM_001206846.1:c.4710A>G	NP_001193775.1:p.Leu1570=
NM_018136.4:c.9465A>G	NP_060606.3:p.Leu3155=
NM_018136.5:c.9465A>G MANE Select	NP_060606.3:p.Leu3155=
NM_001206846.2:c.4710A>G	NP_001193775.1:p.Leu1570=