Canonical Allele Identifier: CA394884927

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263661A>C (hg19) ; chr16:g.16169804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169804A>C , CM000678.2:g.16169804A>C	GRCh38
NC_000016.9:g.16263661A>C , CM000678.1:g.16263661A>C	GRCh37
NC_000016.8:g.16171162A>C	NCBI36
NG_007558.2:g.58668T>G
NG_007558.3:g.58814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2837T>G	ENSP00000483331.2:p.Leu946Arg
ENST00000205557.12:c.2837T>G MANE Select	ENSP00000205557.7:p.Leu946Arg
ENST00000205557.11:c.2837T>G	ENSP00000205557.7:p.Leu946Arg
ENST00000456970.6:c.2662T>G	ENSP00000405002.2:n.2662T>G
ENST00000622290.4:c.*46T>G	ENSP00000483331.1:n.*46T>G
NM_001171.5:c.2837T>G	NP_001162.4:p.Leu946Arg
XM_011522479.1:c.2804T>G	XP_011520781.1:p.Leu935Arg
XM_011522480.1:c.2495T>G	XP_011520782.1:p.Leu832Arg
XM_011522481.1:c.2495T>G	XP_011520783.1:p.Leu832Arg
XR_932836.1:n.3072T>G
XR_932837.1:n.3073T>G
XR_932838.1:n.3073T>G
NM_001351800.1:c.2495T>G	NP_001338729.1:p.Leu832Arg
NR_147784.1:n.2699T>G
XM_011522479.2:c.2804T>G	XP_011520781.1:p.Leu935Arg
XM_011522481.3:c.2495T>G	XP_011520783.1:p.Leu832Arg
XM_017023212.1:c.2669T>G	XP_016878701.1:p.Leu890Arg
XM_017023214.1:c.2837T>G	XP_016878703.1:p.Leu946Arg
XM_024450261.1:c.2873T>G	XP_024306029.1:p.Leu958Arg
XR_932836.2:n.3018T>G
XR_932837.3:n.3018T>G
XR_932838.3:n.3018T>G
NM_001171.6:c.2837T>G MANE Select	NP_001162.5:p.Leu946Arg