Canonical Allele Identifier: CA394881330

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256928T>G (hg19) ; chr16:g.16163071T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163071T>G , CM000678.2:g.16163071T>G	GRCh38
NC_000016.9:g.16256928T>G , CM000678.1:g.16256928T>G	GRCh37
NC_000016.8:g.16164429T>G	NCBI36
NG_007558.2:g.65401A>C
NG_007558.3:g.65547A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3428A>C	ENSP00000483331.2:p.Gln1143Pro
ENST00000205557.12:c.3428A>C MANE Select	ENSP00000205557.7:p.Gln1143Pro
ENST00000640696.1:c.321-1507A>C	ENSP00000492197.1:n.321-1507A>C
ENST00000205557.11:c.3428A>C	ENSP00000205557.7:p.Gln1143Pro
ENST00000456970.6:c.3132-1507A>C	ENSP00000405002.2:n.3132-1507A>C
ENST00000622290.4:c.*637A>C	ENSP00000483331.1:n.*637A>C
NM_001171.5:c.3428A>C	NP_001162.4:p.Gln1143Pro
XM_011522479.1:c.3395A>C	XP_011520781.1:p.Gln1132Pro
XM_011522480.1:c.3086A>C	XP_011520782.1:p.Gln1029Pro
XM_011522481.1:c.3086A>C	XP_011520783.1:p.Gln1029Pro
XR_932836.1:n.3663A>C
XR_932837.1:n.3543-1507A>C
XR_932838.1:n.3543-1507A>C
XR_933133.1:n.407+228T>G
XR_933134.1:n.754+228T>G
NM_001351800.1:c.3086A>C	NP_001338729.1:p.Gln1029Pro
NR_147784.1:n.3169-1507A>C
XM_011522479.2:c.3395A>C	XP_011520781.1:p.Gln1132Pro
XM_011522481.3:c.3086A>C	XP_011520783.1:p.Gln1029Pro
XM_017023212.1:c.3260A>C	XP_016878701.1:p.Gln1087Pro
XM_017023214.1:c.3307-1507A>C	XP_016878703.1:n.3307-1507A>C
XM_024450261.1:c.3464A>C	XP_024306029.1:p.Gln1155Pro
XR_932836.2:n.3609A>C
XR_932837.3:n.3488-1507A>C
XR_932838.3:n.3488-1507A>C
NM_001171.6:c.3428A>C MANE Select	NP_001162.5:p.Gln1143Pro