Canonical Allele Identifier: CA394881336

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256929G>C (hg19) ; chr16:g.16163072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163072G>C , CM000678.2:g.16163072G>C	GRCh38
NC_000016.9:g.16256929G>C , CM000678.1:g.16256929G>C	GRCh37
NC_000016.8:g.16164430G>C	NCBI36
NG_007558.2:g.65400C>G
NG_007558.3:g.65546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3427C>G	ENSP00000483331.2:p.Gln1143Glu
ENST00000205557.12:c.3427C>G MANE Select	ENSP00000205557.7:p.Gln1143Glu
ENST00000640696.1:c.321-1508C>G	ENSP00000492197.1:n.321-1508C>G
ENST00000205557.11:c.3427C>G	ENSP00000205557.7:p.Gln1143Glu
ENST00000456970.6:c.3132-1508C>G	ENSP00000405002.2:n.3132-1508C>G
ENST00000622290.4:c.*636C>G	ENSP00000483331.1:n.*636C>G
NM_001171.5:c.3427C>G	NP_001162.4:p.Gln1143Glu
XM_011522479.1:c.3394C>G	XP_011520781.1:p.Gln1132Glu
XM_011522480.1:c.3085C>G	XP_011520782.1:p.Gln1029Glu
XM_011522481.1:c.3085C>G	XP_011520783.1:p.Gln1029Glu
XR_932836.1:n.3662C>G
XR_932837.1:n.3543-1508C>G
XR_932838.1:n.3543-1508C>G
XR_933133.1:n.407+229G>C
XR_933134.1:n.754+229G>C
NM_001351800.1:c.3085C>G	NP_001338729.1:p.Gln1029Glu
NR_147784.1:n.3169-1508C>G
XM_011522479.2:c.3394C>G	XP_011520781.1:p.Gln1132Glu
XM_011522481.3:c.3085C>G	XP_011520783.1:p.Gln1029Glu
XM_017023212.1:c.3259C>G	XP_016878701.1:p.Gln1087Glu
XM_017023214.1:c.3307-1508C>G	XP_016878703.1:n.3307-1508C>G
XM_024450261.1:c.3463C>G	XP_024306029.1:p.Gln1155Glu
XR_932836.2:n.3608C>G
XR_932837.3:n.3488-1508C>G
XR_932838.3:n.3488-1508C>G
NM_001171.6:c.3427C>G MANE Select	NP_001162.5:p.Gln1143Glu