Canonical Allele Identifier: CA394883011

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259580T>C (hg19) ; chr16:g.16165723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165723T>C , CM000678.2:g.16165723T>C	GRCh38
NC_000016.9:g.16259580T>C , CM000678.1:g.16259580T>C	GRCh37
NC_000016.8:g.16167081T>C	NCBI36
NG_007558.2:g.62749A>G
NG_007558.3:g.62895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3206A>G	ENSP00000483331.2:p.Tyr1069Cys
ENST00000205557.12:c.3206A>G MANE Select	ENSP00000205557.7:p.Tyr1069Cys
ENST00000640696.1:c.221A>G	ENSP00000492197.1:p.Tyr74Cys
ENST00000205557.11:c.3206A>G	ENSP00000205557.7:p.Tyr1069Cys
ENST00000456970.6:c.3031A>G	ENSP00000405002.2:n.3031A>G
ENST00000622290.4:c.*415A>G	ENSP00000483331.1:n.*415A>G
NM_001171.5:c.3206A>G	NP_001162.4:p.Tyr1069Cys
XM_011522479.1:c.3173A>G	XP_011520781.1:p.Tyr1058Cys
XM_011522480.1:c.2864A>G	XP_011520782.1:p.Tyr955Cys
XM_011522481.1:c.2864A>G	XP_011520783.1:p.Tyr955Cys
XR_932836.1:n.3441A>G
XR_932837.1:n.3442A>G
XR_932838.1:n.3442A>G
NM_001351800.1:c.2864A>G	NP_001338729.1:p.Tyr955Cys
NR_147784.1:n.3068A>G
XM_011522479.2:c.3173A>G	XP_011520781.1:p.Tyr1058Cys
XM_011522481.3:c.2864A>G	XP_011520783.1:p.Tyr955Cys
XM_017023212.1:c.3038A>G	XP_016878701.1:p.Tyr1013Cys
XM_017023214.1:c.3206A>G	XP_016878703.1:p.Tyr1069Cys
XM_024450261.1:c.3242A>G	XP_024306029.1:p.Tyr1081Cys
XR_932836.2:n.3387A>G
XR_932837.3:n.3387A>G
XR_932838.3:n.3387A>G
NM_001171.6:c.3206A>G MANE Select	NP_001162.5:p.Tyr1069Cys