Canonical Allele Identifier: CA394876046

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248856C>A (hg19) ; chr16:g.16154999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154999C>A , CM000678.2:g.16154999C>A	GRCh38
NC_000016.9:g.16248856C>A , CM000678.1:g.16248856C>A	GRCh37
NC_000016.8:g.16156357C>A	NCBI36
NG_007558.2:g.73473G>T
NG_007558.3:g.73619G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.778G>T
ENST00000622290.5:c.*87G>T	ENSP00000483331.2:n.*87G>T
ENST00000205557.12:c.3915G>T MANE Select	ENSP00000205557.7:p.Lys1305Asn
ENST00000640696.1:c.729G>T	ENSP00000492197.1:p.Lys243Asn
ENST00000205557.11:c.3915G>T	ENSP00000205557.7:p.Lys1305Asn
ENST00000456970.6:c.3540G>T	ENSP00000405002.2:n.3540G>T
ENST00000576204.5:n.778G>T
ENST00000622290.4:c.*1124G>T	ENSP00000483331.1:n.*1124G>T
NM_001171.5:c.3915G>T	NP_001162.4:p.Lys1305Asn
XM_011522479.1:c.3882G>T	XP_011520781.1:p.Lys1294Asn
XM_011522480.1:c.3573G>T	XP_011520782.1:p.Lys1191Asn
XM_011522481.1:c.3573G>T	XP_011520783.1:p.Lys1191Asn
XR_932836.1:n.4213G>T
XR_932837.1:n.3951G>T
XR_932838.1:n.4014G>T
XR_933134.1:n.539-4782C>A
NM_001351800.1:c.3573G>T	NP_001338729.1:p.Lys1191Asn
NR_147784.1:n.3577G>T
XM_011522479.2:c.3882G>T	XP_011520781.1:p.Lys1294Asn
XM_011522481.3:c.3573G>T	XP_011520783.1:p.Lys1191Asn
XM_017023212.1:c.3747G>T	XP_016878701.1:p.Lys1249Asn
XM_024450261.1:c.3951G>T	XP_024306029.1:p.Lys1317Asn
XR_932836.2:n.4159G>T
XR_932837.3:n.3896G>T
XR_932838.3:n.3959G>T
NM_001171.6:c.3915G>T MANE Select	NP_001162.5:p.Lys1305Asn