Canonical Allele Identifier: CA343997401

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057409G>C (hg19) ; chr1:g.197088279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088279G>C , CM000663.2:g.197088279G>C	GRCh38
NC_000001.10:g.197057409G>C , CM000663.1:g.197057409G>C	GRCh37
NC_000001.9:g.195324032G>C	NCBI36
NG_015867.1:g.63416C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3425C>G
ENST00000367409.9:c.10138C>G MANE Select	ENSP00000356379.4:p.Leu3380Val
ENST00000680265.1:c.10360C>G	ENSP00000505384.1:p.Leu3454Val
ENST00000680710.1:c.10114C>G	ENSP00000506676.1:p.Leu3372Val
ENST00000294732.11:c.5383C>G	ENSP00000294732.7:p.Leu1795Val
ENST00000367408.5:c.3133C>G	ENSP00000356378.1:p.Leu1045Val
ENST00000367409.8:c.10138C>G	ENSP00000356379.4:p.Leu3380Val
ENST00000612785.1:c.4096C>G	ENSP00000479244.1:p.Leu1366Val
NM_001206846.1:c.5383C>G	NP_001193775.1:p.Leu1795Val
NM_018136.4:c.10138C>G	NP_060606.3:p.Leu3380Val
NM_018136.5:c.10138C>G MANE Select	NP_060606.3:p.Leu3380Val
NM_001206846.2:c.5383C>G	NP_001193775.1:p.Leu1795Val