Canonical Allele Identifier: CA1217930330

Gene: ASPM

Linked Data

• dbSNP Id: rs1657230307

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102530_197102544dup , CM000663.2:g.197102530_197102544dup	GRCh38
NC_000001.10:g.197071660_197071674dup , CM000663.1:g.197071660_197071674dup	GRCh37
NC_000001.9:g.195338283_195338297dup	NCBI36
NG_015867.1:g.49153_49167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6378_2108-6364dup
ENST00000367409.9:c.6709_6723dup MANE Select	ENSP00000356379.4:p.His2241_Ser2242insAsnLysLeuArgHis
ENST00000680265.1:c.6709_6723dup	ENSP00000505384.1:p.His2241_Ser2242insAsnLysLeuArgHis
ENST00000680710.1:c.6709_6723dup	ENSP00000506676.1:p.His2241_Ser2242insAsnLysLeuArgHis
ENST00000294732.11:c.4066-6378_4066-6364dup	ENSP00000294732.7:n.4066-6378_4066-6364dup
ENST00000367408.5:c.1816-6378_1816-6364dup	ENSP00000356378.1:n.1816-6378_1816-6364dup
ENST00000367409.8:c.6709_6723dup	ENSP00000356379.4:p.His2241_Ser2242insAsnLysLeuArgHis
ENST00000612785.1:c.667_681dup	ENSP00000479244.1:p.His227_Ser228insAsnLysLeuArgHis
NM_001206846.1:c.4066-6378_4066-6364dup	NP_001193775.1:n.4066-6378_4066-6364dup
NM_018136.4:c.6709_6723dup	NP_060606.3:p.His2241_Ser2242insAsnLysLeuArgHis
NM_018136.5:c.6709_6723dup MANE Select	NP_060606.3:p.His2241_Ser2242insAsnLysLeuArgHis
NM_001206846.2:c.4066-6378_4066-6364dup	NP_001193775.1:n.4066-6378_4066-6364dup