Canonical Allele Identifier: CA406301487

Gene: APOE

Linked Data

• dbSNP Id: rs1301223903
• gnomAD v2: 19-45409174-C-T
• gnomAD v3: 19-44905917-C-T
• gnomAD v4: 19-44905917-C-T
• MyVariant Identifiers: chr19:g.45409174C>T (hg19) ; chr19:g.44905917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44905917C>T , CM000681.2:g.44905917C>T	GRCh38
NC_000019.9:g.45409174C>T , CM000681.1:g.45409174C>T	GRCh37
NC_000019.8:g.50101014C>T	NCBI36
NG_007084.2:g.5136C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.-24+76C>T MANE Select	ENSP00000252486.3:n.-24+76C>T
ENST00000252486.8:c.-24+76C>T	ENSP00000252486.3:n.-24+76C>T
ENST00000434152.5:c.49C>T	ENSP00000413653.2:p.Pro17Ser
ENST00000446996.5:c.-39+76C>T	ENSP00000413135.1:n.-39+76C>T
ENST00000485628.2:n.46+76C>T
NM_000041.3:c.-24+76C>T	NP_000032.1:n.-24+76C>T
NM_001302688.1:c.49C>T	NP_001289617.1:p.Pro17Ser
NM_001302691.1:c.-39+76C>T	NP_001289620.1:n.-39+76C>T
NM_000041.4:c.-24+76C>T MANE Select	NP_000032.1:n.-24+76C>T
NM_001302688.2:c.49C>T	NP_001289617.1:p.Pro17Ser
NM_001302691.2:c.-39+76C>T	NP_001289620.1:n.-39+76C>T