Canonical Allele Identifier: CA394884237

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263505T>G (hg19) ; chr16:g.16169648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169648T>G , CM000678.2:g.16169648T>G	GRCh38
NC_000016.9:g.16263505T>G , CM000678.1:g.16263505T>G	GRCh37
NC_000016.8:g.16171006T>G	NCBI36
NG_007558.2:g.58824A>C
NG_007558.3:g.58970A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2993A>C	ENSP00000483331.2:p.Gln998Pro
ENST00000205557.12:c.2993A>C MANE Select	ENSP00000205557.7:p.Gln998Pro
ENST00000205557.11:c.2993A>C	ENSP00000205557.7:p.Gln998Pro
ENST00000456970.6:c.2818A>C	ENSP00000405002.2:n.2818A>C
ENST00000622290.4:c.*202A>C	ENSP00000483331.1:n.*202A>C
NM_001171.5:c.2993A>C	NP_001162.4:p.Gln998Pro
XM_011522479.1:c.2960A>C	XP_011520781.1:p.Gln987Pro
XM_011522480.1:c.2651A>C	XP_011520782.1:p.Gln884Pro
XM_011522481.1:c.2651A>C	XP_011520783.1:p.Gln884Pro
XR_932836.1:n.3228A>C
XR_932837.1:n.3229A>C
XR_932838.1:n.3229A>C
NM_001351800.1:c.2651A>C	NP_001338729.1:p.Gln884Pro
NR_147784.1:n.2855A>C
XM_011522479.2:c.2960A>C	XP_011520781.1:p.Gln987Pro
XM_011522481.3:c.2651A>C	XP_011520783.1:p.Gln884Pro
XM_017023212.1:c.2825A>C	XP_016878701.1:p.Gln942Pro
XM_017023214.1:c.2993A>C	XP_016878703.1:p.Gln998Pro
XM_024450261.1:c.3029A>C	XP_024306029.1:p.Gln1010Pro
XR_932836.2:n.3174A>C
XR_932837.3:n.3174A>C
XR_932838.3:n.3174A>C
NM_001171.6:c.2993A>C MANE Select	NP_001162.5:p.Gln998Pro