Canonical Allele Identifier: CA613871824

Gene: ATL1 MAP4K5

Linked Data

• ClinVar Variation Id: 513999
• ClinVar RCV Id: RCV000611772 ; RCV003767662
• dbSNP Id: rs368925590
• gnomAD v2: 14-51027033-G-A
• gnomAD v3: 14-50560315-G-A
• gnomAD v4: 14-50560315-G-A
• MyVariant Identifiers: chr14:g.51027033G>A (hg19) ; chr14:g.50560315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50560315G>A , CM000676.2:g.50560315G>A	GRCh38
NC_000014.8:g.51027033G>A , CM000676.1:g.51027033G>A	GRCh37
NC_000014.7:g.50096783G>A	NCBI36
NG_009028.1:g.32234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.34+16G>A (ATL1)	ENSP00000450989.2:n.34+16G>A
ENST00000553746.2:n.235+16G>A (ATL1)
ENST00000556478.3:c.34+16G>A (ATL1)	ENSP00000501428.2:n.34+16G>A
ENST00000682037.1:c.34+16G>A (ATL1)	ENSP00000508289.1:n.34+16G>A
ENST00000682219.1:n.913+16G>A (ATL1)
ENST00000682226.1:n.368+16G>A (ATL1)
ENST00000682487.1:n.368+16G>A (ATL1)
ENST00000683330.1:n.368+16G>A (ATL1)
ENST00000683703.1:n.368+16G>A (ATL1)
ENST00000683837.1:n.368+16G>A (ATL1)
ENST00000684737.1:n.368+16G>A (ATL1)
ENST00000358385.12:c.34+16G>A (ATL1) MANE Select	ENSP00000351155.7:n.34+16G>A
ENST00000674288.1:c.34+16G>A (ATL1)	ENSP00000501522.1:n.34+16G>A
ENST00000674478.1:n.368+16G>A (ATL1)
ENST00000358385.10:c.34+16G>A (ATL1)	ENSP00000351155.6:n.34+16G>A
ENST00000441560.6:c.34+16G>A (ATL1)	ENSP00000413675.2:n.34+16G>A
ENST00000553509.1:c.34+16G>A (ATL1)	ENSP00000450989.1:n.34+16G>A
ENST00000554886.1:c.-151+16G>A (ATL1)	ENSP00000452074.1:n.-151+16G>A
ENST00000555216.5:c.-180+725C>T (MAP4K5)	ENSP00000452289.1:n.-180+725C>T
ENST00000555960.5:c.34+16G>A (ATL1)	ENSP00000452506.1:n.34+16G>A
ENST00000556478.2:n.538+16G>A (ATL1)
ENST00000557735.1:c.-401G>A (ATL1)	ENSP00000451015.1:n.-401G>A
NM_001127713.1:c.34+16G>A (ATL1)	NP_001121185.1:n.34+16G>A
NM_015915.4:c.34+16G>A (ATL1)	NP_056999.2:n.34+16G>A
NM_181598.3:c.34+16G>A (ATL1)	NP_853629.2:n.34+16G>A
XM_011536378.1:c.-180+725C>T (MAP4K5)	XP_011534680.1:n.-180+725C>T
XM_011536378.3:c.-180+725C>T (MAP4K5)	XP_011534680.1:n.-180+725C>T
XM_024449461.1:c.-196+725C>T (MAP4K5)	XP_024305229.1:n.-196+725C>T
NM_015915.5:c.34+16G>A (ATL1) MANE Select	NP_056999.2:n.34+16G>A
NM_181598.4:c.34+16G>A (ATL1)	NP_853629.2:n.34+16G>A