Canonical Allele Identifier: CA344018040

Gene: ASPM

Linked Data

• dbSNP Id: rs1657185633
• gnomAD v3: 1-197101591-G-A
• gnomAD v4: 1-197101591-G-A
• MyVariant Identifiers: chr1:g.197070721G>A (hg19) ; chr1:g.197101591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101591G>A , CM000663.2:g.197101591G>A	GRCh38
NC_000001.10:g.197070721G>A , CM000663.1:g.197070721G>A	GRCh37
NC_000001.9:g.195337344G>A	NCBI36
NG_015867.1:g.50104C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5427C>T
ENST00000367409.9:c.7660C>T MANE Select	ENSP00000356379.4:p.His2554Tyr
ENST00000680265.1:c.7660C>T	ENSP00000505384.1:p.His2554Tyr
ENST00000680710.1:c.7660C>T	ENSP00000506676.1:p.His2554Tyr
ENST00000294732.11:c.4066-5427C>T	ENSP00000294732.7:n.4066-5427C>T
ENST00000367408.5:c.1816-5427C>T	ENSP00000356378.1:n.1816-5427C>T
ENST00000367409.8:c.7660C>T	ENSP00000356379.4:p.His2554Tyr
ENST00000612785.1:c.1618C>T	ENSP00000479244.1:p.His540Tyr
NM_001206846.1:c.4066-5427C>T	NP_001193775.1:n.4066-5427C>T
NM_018136.4:c.7660C>T	NP_060606.3:p.His2554Tyr
NM_018136.5:c.7660C>T MANE Select	NP_060606.3:p.His2554Tyr
NM_001206846.2:c.4066-5427C>T	NP_001193775.1:n.4066-5427C>T