Canonical Allele Identifier: CA394881515

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256963G>C (hg19) ; chr16:g.16163106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163106G>C , CM000678.2:g.16163106G>C	GRCh38
NC_000016.9:g.16256963G>C , CM000678.1:g.16256963G>C	GRCh37
NC_000016.8:g.16164464G>C	NCBI36
NG_007558.2:g.65366C>G
NG_007558.3:g.65512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3393C>G	ENSP00000483331.2:p.Phe1131Leu
ENST00000205557.12:c.3393C>G MANE Select	ENSP00000205557.7:p.Phe1131Leu
ENST00000640696.1:c.321-1542C>G	ENSP00000492197.1:n.321-1542C>G
ENST00000205557.11:c.3393C>G	ENSP00000205557.7:p.Phe1131Leu
ENST00000456970.6:c.3132-1542C>G	ENSP00000405002.2:n.3132-1542C>G
ENST00000622290.4:c.*602C>G	ENSP00000483331.1:n.*602C>G
NM_001171.5:c.3393C>G	NP_001162.4:p.Phe1131Leu
XM_011522479.1:c.3360C>G	XP_011520781.1:p.Phe1120Leu
XM_011522480.1:c.3051C>G	XP_011520782.1:p.Phe1017Leu
XM_011522481.1:c.3051C>G	XP_011520783.1:p.Phe1017Leu
XR_932836.1:n.3628C>G
XR_932837.1:n.3543-1542C>G
XR_932838.1:n.3543-1542C>G
XR_933133.1:n.407+263G>C
XR_933134.1:n.754+263G>C
NM_001351800.1:c.3051C>G	NP_001338729.1:p.Phe1017Leu
NR_147784.1:n.3169-1542C>G
XM_011522479.2:c.3360C>G	XP_011520781.1:p.Phe1120Leu
XM_011522481.3:c.3051C>G	XP_011520783.1:p.Phe1017Leu
XM_017023212.1:c.3225C>G	XP_016878701.1:p.Phe1075Leu
XM_017023214.1:c.3307-1542C>G	XP_016878703.1:n.3307-1542C>G
XM_024450261.1:c.3429C>G	XP_024306029.1:p.Phe1143Leu
XR_932836.2:n.3574C>G
XR_932837.3:n.3488-1542C>G
XR_932838.3:n.3488-1542C>G
NM_001171.6:c.3393C>G MANE Select	NP_001162.5:p.Phe1131Leu