Canonical Allele Identifier: CA28973854

Gene: AP4B1

Linked Data

• dbSNP Id: rs995546596
• gnomAD v4: 1-113902692-G-C
• MyVariant Identifiers: chr1:g.114445314G>C (hg19) ; chr1:g.113902692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113902692G>C , CM000663.2:g.113902692G>C	GRCh38
NC_000001.10:g.114445314G>C , CM000663.1:g.114445314G>C	GRCh37
NC_000001.9:g.114246837G>C	NCBI36
NG_031901.1:g.7428C>G
NG_057565.1:g.3074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.114-807C>G	ENSP00000358577.2:n.114-807C>G
ENST00000369567.6:c.113+1913C>G	ENSP00000358580.1:n.113+1913C>G
ENST00000369571.3:c.284C>G	ENSP00000358584.3:p.Ser95Ter
ENST00000432415.6:c.113+1913C>G	ENSP00000393622.2:n.113+1913C>G
ENST00000460653.2:c.284C>G	ENSP00000518881.1:p.Ser95Ter
ENST00000484201.6:c.114-807C>G	ENSP00000518883.1:n.114-807C>G
ENST00000489092.6:c.156C>G	ENSP00000518884.1:p.Leu52=
ENST00000489499.6:c.284C>G	ENSP00000518882.1:p.Ser95Ter
ENST00000713588.1:c.284C>G	ENSP00000518880.1:p.Ser95Ter
ENST00000713590.1:c.284C>G	ENSP00000518886.1:p.Ser95Ter
ENST00000369569.6:c.284C>G MANE Select	ENSP00000358582.1:p.Ser95Ter
ENST00000256658.8:c.284C>G	ENSP00000256658.4:p.Ser95Ter
ENST00000369564.5:c.114-807C>G	ENSP00000358577.1:n.114-807C>G
ENST00000369567.5:c.113+1913C>G	ENSP00000358580.1:n.113+1913C>G
ENST00000369569.5:c.284C>G	ENSP00000358582.1:p.Ser95Ter
ENST00000369571.2:c.284C>G	ENSP00000358584.2:p.Ser95Ter
ENST00000432415.5:c.113+1913C>G	ENSP00000393622.1:n.113+1913C>G
ENST00000484201.5:n.305-807C>G
ENST00000489092.5:n.283C>G
ENST00000489499.5:n.400C>G
NM_001253852.1:c.284C>G	NP_001240781.1:p.Ser95Ter
NM_001253852.2:c.284C>G	NP_001240781.1:p.Ser95Ter
NM_001253853.1:c.-14C>G	NP_001240782.1:n.-14C>G
NM_001253853.2:c.-14C>G	NP_001240782.1:n.-14C>G
NM_001308312.1:c.113+1913C>G	NP_001295241.1:n.113+1913C>G
NM_006594.3:c.284C>G	NP_006585.2:p.Ser95Ter
NM_006594.4:c.284C>G	NP_006585.2:p.Ser95Ter
XM_005270381.2:c.284C>G	XP_005270438.1:p.Ser95Ter
XM_005270382.3:c.284C>G	XP_005270439.1:p.Ser95Ter
XM_011540523.1:c.114-807C>G	XP_011538825.1:n.114-807C>G
XM_011540524.1:c.114-807C>G	XP_011538826.1:n.114-807C>G
XM_011540525.1:c.284C>G	XP_011538827.1:p.Ser95Ter
XM_011540527.1:c.-187C>G	XP_011538829.1:n.-187C>G
XR_246227.1:n.466C>G
XR_246228.2:n.466C>G
XM_011540523.3:c.114-807C>G	XP_011538825.1:n.114-807C>G
XM_011540525.3:c.284C>G	XP_011538827.1:p.Ser95Ter
XM_017000089.2:c.284C>G	XP_016855578.1:p.Ser95Ter
XM_017000090.1:c.113+1913C>G	XP_016855579.1:n.113+1913C>G
XM_017000091.2:c.284C>G	XP_016855580.1:p.Ser95Ter
XM_017000092.2:c.-961C>G	XP_016855581.1:n.-961C>G
XM_017000093.2:c.284C>G	XP_016855582.1:p.Ser95Ter
XM_024452422.1:c.284C>G	XP_024308190.1:p.Ser95Ter
XM_024452423.1:c.284C>G	XP_024308191.1:p.Ser95Ter
XM_024452435.1:c.114-807C>G	XP_024308203.1:n.114-807C>G
XM_024452441.1:c.113+1913C>G	XP_024308209.1:n.113+1913C>G
XR_001736928.2:n.486C>G
XR_001736930.2:n.486C>G
XR_002958805.1:n.486C>G
XR_002958806.1:n.486C>G
XR_002958807.1:n.366C>G
NM_001253852.3:c.284C>G MANE Select	NP_001240781.1:p.Ser95Ter
NM_001253853.3:c.-14C>G	NP_001240782.1:n.-14C>G
NM_001308312.2:c.113+1913C>G	NP_001295241.1:n.113+1913C>G
NM_006594.5:c.284C>G	NP_006585.2:p.Ser95Ter