Canonical Allele Identifier: CA343998724

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057546G>A (hg19) ; chr1:g.197088416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088416G>A , CM000663.2:g.197088416G>A	GRCh38
NC_000001.10:g.197057546G>A , CM000663.1:g.197057546G>A	GRCh37
NC_000001.9:g.195324169G>A	NCBI36
NG_015867.1:g.63279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3288C>T
ENST00000367409.9:c.10001C>T MANE Select	ENSP00000356379.4:p.Ser3334Leu
ENST00000680265.1:c.10223C>T	ENSP00000505384.1:p.Ser3408Leu
ENST00000680710.1:c.9977C>T	ENSP00000506676.1:p.Ser3326Leu
ENST00000294732.11:c.5246C>T	ENSP00000294732.7:p.Ser1749Leu
ENST00000367408.5:c.2996C>T	ENSP00000356378.1:p.Ser999Leu
ENST00000367409.8:c.10001C>T	ENSP00000356379.4:p.Ser3334Leu
ENST00000612785.1:c.3959C>T	ENSP00000479244.1:p.Ser1320Leu
NM_001206846.1:c.5246C>T	NP_001193775.1:p.Ser1749Leu
NM_018136.4:c.10001C>T	NP_060606.3:p.Ser3334Leu
NM_018136.5:c.10001C>T MANE Select	NP_060606.3:p.Ser3334Leu
NM_001206846.2:c.5246C>T	NP_001193775.1:p.Ser1749Leu