Canonical Allele Identifier: CA394876062

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248857T>G (hg19) ; chr16:g.16155000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155000T>G , CM000678.2:g.16155000T>G	GRCh38
NC_000016.9:g.16248857T>G , CM000678.1:g.16248857T>G	GRCh37
NC_000016.8:g.16156358T>G	NCBI36
NG_007558.2:g.73472A>C
NG_007558.3:g.73618A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.777A>C
ENST00000622290.5:c.*86A>C	ENSP00000483331.2:n.*86A>C
ENST00000205557.12:c.3914A>C MANE Select	ENSP00000205557.7:p.Lys1305Thr
ENST00000640696.1:c.728A>C	ENSP00000492197.1:p.Lys243Thr
ENST00000205557.11:c.3914A>C	ENSP00000205557.7:p.Lys1305Thr
ENST00000456970.6:c.3539A>C	ENSP00000405002.2:n.3539A>C
ENST00000576204.5:n.777A>C
ENST00000622290.4:c.*1123A>C	ENSP00000483331.1:n.*1123A>C
NM_001171.5:c.3914A>C	NP_001162.4:p.Lys1305Thr
XM_011522479.1:c.3881A>C	XP_011520781.1:p.Lys1294Thr
XM_011522480.1:c.3572A>C	XP_011520782.1:p.Lys1191Thr
XM_011522481.1:c.3572A>C	XP_011520783.1:p.Lys1191Thr
XR_932836.1:n.4212A>C
XR_932837.1:n.3950A>C
XR_932838.1:n.4013A>C
XR_933134.1:n.539-4781T>G
NM_001351800.1:c.3572A>C	NP_001338729.1:p.Lys1191Thr
NR_147784.1:n.3576A>C
XM_011522479.2:c.3881A>C	XP_011520781.1:p.Lys1294Thr
XM_011522481.3:c.3572A>C	XP_011520783.1:p.Lys1191Thr
XM_017023212.1:c.3746A>C	XP_016878701.1:p.Lys1249Thr
XM_024450261.1:c.3950A>C	XP_024306029.1:p.Lys1317Thr
XR_932836.2:n.4158A>C
XR_932837.3:n.3895A>C
XR_932838.3:n.3958A>C
NM_001171.6:c.3914A>C MANE Select	NP_001162.5:p.Lys1305Thr