Canonical Allele Identifier: CA394883012

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3206A>C	ENSP00000483331.2:p.Tyr1069Ser
ENST00000205557.12:c.3206A>C MANE Select	ENSP00000205557.7:p.Tyr1069Ser
ENST00000640696.1:c.221A>C	ENSP00000492197.1:p.Tyr74Ser
ENST00000205557.11:c.3206A>C	ENSP00000205557.7:p.Tyr1069Ser
ENST00000456970.6:c.3031A>C	ENSP00000405002.2:n.3031A>C
ENST00000622290.4:c.*415A>C	ENSP00000483331.1:n.*415A>C
NM_001171.5:c.3206A>C	NP_001162.4:p.Tyr1069Ser
XM_011522479.1:c.3173A>C	XP_011520781.1:p.Tyr1058Ser
XM_011522480.1:c.2864A>C	XP_011520782.1:p.Tyr955Ser
XM_011522481.1:c.2864A>C	XP_011520783.1:p.Tyr955Ser
XR_932836.1:n.3441A>C
XR_932837.1:n.3442A>C
XR_932838.1:n.3442A>C
NM_001351800.1:c.2864A>C	NP_001338729.1:p.Tyr955Ser
NR_147784.1:n.3068A>C
XM_011522479.2:c.3173A>C	XP_011520781.1:p.Tyr1058Ser
XM_011522481.3:c.2864A>C	XP_011520783.1:p.Tyr955Ser
XM_017023212.1:c.3038A>C	XP_016878701.1:p.Tyr1013Ser
XM_017023214.1:c.3206A>C	XP_016878703.1:p.Tyr1069Ser
XM_024450261.1:c.3242A>C	XP_024306029.1:p.Tyr1081Ser
XR_932836.2:n.3387A>C
XR_932837.3:n.3387A>C
XR_932838.3:n.3387A>C
NM_001171.6:c.3206A>C MANE Select	NP_001162.5:p.Tyr1069Ser