Canonical Allele Identifier: CA394875833

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248825G>T (hg19) ; chr16:g.16154968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154968G>T , CM000678.2:g.16154968G>T	GRCh38
NC_000016.9:g.16248825G>T , CM000678.1:g.16248825G>T	GRCh37
NC_000016.8:g.16156326G>T	NCBI36
NG_007558.2:g.73504C>A
NG_007558.3:g.73650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.809C>A
ENST00000622290.5:c.*118C>A	ENSP00000483331.2:n.*118C>A
ENST00000205557.12:c.3946C>A MANE Select	ENSP00000205557.7:p.Gln1316Lys
ENST00000640696.1:c.760C>A	ENSP00000492197.1:p.Gln254Lys
ENST00000205557.11:c.3946C>A	ENSP00000205557.7:p.Gln1316Lys
ENST00000456970.6:c.3571C>A	ENSP00000405002.2:n.3571C>A
ENST00000576204.5:n.809C>A
ENST00000622290.4:c.*1155C>A	ENSP00000483331.1:n.*1155C>A
NM_001171.5:c.3946C>A	NP_001162.4:p.Gln1316Lys
XM_011522479.1:c.3913C>A	XP_011520781.1:p.Gln1305Lys
XM_011522480.1:c.3604C>A	XP_011520782.1:p.Gln1202Lys
XM_011522481.1:c.3604C>A	XP_011520783.1:p.Gln1202Lys
XR_932836.1:n.4244C>A
XR_932837.1:n.3982C>A
XR_932838.1:n.4045C>A
XR_933134.1:n.539-4813G>T
NM_001351800.1:c.3604C>A	NP_001338729.1:p.Gln1202Lys
NR_147784.1:n.3608C>A
XM_011522479.2:c.3913C>A	XP_011520781.1:p.Gln1305Lys
XM_011522481.3:c.3604C>A	XP_011520783.1:p.Gln1202Lys
XM_017023212.1:c.3778C>A	XP_016878701.1:p.Gln1260Lys
XM_024450261.1:c.3982C>A	XP_024306029.1:p.Gln1328Lys
XR_932837.3:n.3927C>A
NM_001171.6:c.3946C>A MANE Select	NP_001162.5:p.Gln1316Lys