Canonical Allele Identifier: CA7659240

Gene: CYP1A1

Linked Data

• dbSNP Id: rs760328769
• ExAC: 15:75012983 AATGG / A
• gnomAD v2: 15-75012983-AATGG-A
• gnomAD v4: 15-74720642-AATGG-A
• MyVariant Identifiers: chr15:g.75012984_75012987del (hg19) ; chr15:g.74720643_74720646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720643_74720646del , CM000677.2:g.74720643_74720646del	GRCh38
NC_000015.9:g.75012984_75012987del , CM000677.1:g.75012984_75012987del	GRCh37
NC_000015.8:g.72800037_72800040del	NCBI36
NG_008431.1:g.3102_3105del
NG_008431.2:g.3102_3105del
NG_061374.1:g.9883_9886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379727.8:c.1382_1385del MANE Select	ENSP00000369050.3:p.Thr461MetfsTer25
ENST00000379727.7:c.1382_1385del	ENSP00000369050.3:p.Thr461MetfsTer25
ENST00000395048.6:c.1382_1385del	ENSP00000378488.2:p.Thr461MetfsTer25
ENST00000395049.8:c.1295_1298del	ENSP00000378489.4:p.Thr432MetfsTer25
ENST00000567032.5:c.1382_1385del	ENSP00000456585.1:p.Thr461MetfsTer25
ENST00000612821.4:c.1298_1301del	ENSP00000479744.1:p.Thr433MetfsTer25
ENST00000617691.4:c.1295_1298del	ENSP00000482863.1:p.Thr432MetfsTer25
NM_000499.3:c.1382_1385del	NP_000490.1:p.Thr461MetfsTer25
XM_005254185.1:c.1382_1385del	XP_005254242.1:p.Thr461MetfsTer25
NM_000499.5:c.1382_1385del	NP_000490.1:p.Thr461MetfsTer25
NM_001319216.2:c.1295_1298del	NP_001306145.1:p.Thr432MetfsTer25
NM_001319217.2:c.1382_1385del MANE Select	NP_001306146.1:p.Thr461MetfsTer25