Canonical Allele Identifier: CA394875597

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248782A>T (hg19) ; chr16:g.16154925A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154925A>T , CM000678.2:g.16154925A>T	GRCh38
NC_000016.9:g.16248782A>T , CM000678.1:g.16248782A>T	GRCh37
NC_000016.8:g.16156283A>T	NCBI36
NG_007558.2:g.73547T>A
NG_007558.3:g.73693T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.852T>A
ENST00000622290.5:c.*161T>A	ENSP00000483331.2:n.*161T>A
ENST00000205557.12:c.3989T>A MANE Select	ENSP00000205557.7:p.Ile1330Asn
ENST00000640696.1:c.803T>A	ENSP00000492197.1:p.Ile268Asn
ENST00000205557.11:c.3989T>A	ENSP00000205557.7:p.Ile1330Asn
ENST00000456970.6:c.3614T>A	ENSP00000405002.2:n.3614T>A
ENST00000576204.5:n.852T>A
ENST00000622290.4:c.*1198T>A	ENSP00000483331.1:n.*1198T>A
NM_001171.5:c.3989T>A	NP_001162.4:p.Ile1330Asn
XM_011522479.1:c.3956T>A	XP_011520781.1:p.Ile1319Asn
XM_011522480.1:c.3647T>A	XP_011520782.1:p.Ile1216Asn
XM_011522481.1:c.3647T>A	XP_011520783.1:p.Ile1216Asn
XR_933134.1:n.539-4856A>T
NM_001351800.1:c.3647T>A	NP_001338729.1:p.Ile1216Asn
NR_147784.1:n.3651T>A
XM_011522479.2:c.3956T>A	XP_011520781.1:p.Ile1319Asn
XM_011522481.3:c.3647T>A	XP_011520783.1:p.Ile1216Asn
XM_017023212.1:c.3821T>A	XP_016878701.1:p.Ile1274Asn
XM_024450261.1:c.4025T>A	XP_024306029.1:p.Ile1342Asn
NM_001171.6:c.3989T>A MANE Select	NP_001162.5:p.Ile1330Asn