Canonical Allele Identifier: CA394884427

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248518T>A (hg19) ; chr16:g.16154661T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154661T>A , CM000678.2:g.16154661T>A	GRCh38
NC_000016.9:g.16248518T>A , CM000678.1:g.16248518T>A	GRCh37
NC_000016.8:g.16156019T>A	NCBI36
NG_007558.2:g.73811A>T
NG_007558.3:g.73957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*347A>T	ENSP00000483331.2:n.*347A>T
ENST00000205557.12:c.4175A>T MANE Select	ENSP00000205557.7:p.Gln1392Leu
ENST00000640696.1:c.989A>T	ENSP00000492197.1:p.Gln330Leu
ENST00000205557.11:c.4175A>T	ENSP00000205557.7:p.Gln1392Leu
ENST00000456970.6:c.3800A>T	ENSP00000405002.2:n.3800A>T
ENST00000576204.5:n.1038A>T
ENST00000622290.4:c.*1384A>T	ENSP00000483331.1:n.*1384A>T
NM_001171.5:c.4175A>T	NP_001162.4:p.Gln1392Leu
XM_011522479.1:c.4142A>T	XP_011520781.1:p.Gln1381Leu
XM_011522480.1:c.3833A>T	XP_011520782.1:p.Gln1278Leu
XM_011522481.1:c.3833A>T	XP_011520783.1:p.Gln1278Leu
XR_933134.1:n.539-5120T>A
NM_001351800.1:c.3833A>T	NP_001338729.1:p.Gln1278Leu
NR_147784.1:n.3837A>T
XM_011522479.2:c.4142A>T	XP_011520781.1:p.Gln1381Leu
XM_011522481.3:c.3833A>T	XP_011520783.1:p.Gln1278Leu
XM_017023212.1:c.4007A>T	XP_016878701.1:p.Gln1336Leu
XM_024450261.1:c.4211A>T	XP_024306029.1:p.Gln1404Leu
NM_001171.6:c.4175A>T MANE Select	NP_001162.5:p.Gln1392Leu