Canonical Allele Identifier: CA2263918887
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195742G= , CM000679.2:g.50195742G= GRCh38
NC_000017.10:g.48273103G= , CM000679.1:g.48273103G= GRCh37
NC_000017.9:g.45628102G= NCBI36
NG_007400.1:g.10898C= , LRG_1:g.10898C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1057-77C= MANE Select ENSP00000225964.6:n.1057-77C=
ENST00000225964.9:c.1057-77C= ENSP00000225964.5:n.1057-77C=
NM_000088.3:c.1057-77C= , LRG_1t1:c.1057-77C= NP_000079.2:n.1057-77C=
XM_005257058.3:c.1057-77C= XP_005257115.2:n.1057-77C=
XM_005257059.3:c.957+572C= XP_005257116.2:n.957+572C=
XM_011524341.1:c.958-264C= XP_011522643.1:n.958-264C=
XM_005257058.4:c.1057-77C= XP_005257115.2:n.1057-77C=
XM_005257059.4:c.957+572C= XP_005257116.2:n.957+572C=
NM_000088.4:c.1057-77C= MANE Select NP_000079.2:n.1057-77C=