Canonical Allele Identifier: CA2263916063
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190182T= , CM000679.2:g.50190182T= GRCh38
NC_000017.10:g.48267543T= , CM000679.1:g.48267543T= GRCh37
NC_000017.9:g.45622542T= NCBI36
NG_007400.1:g.16458A= , LRG_1:g.16458A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2452-74A= MANE Select ENSP00000225964.6:n.2452-74A=
ENST00000225964.9:c.2452-74A= ENSP00000225964.5:n.2452-74A=
NM_000088.3:c.2452-74A= , LRG_1t1:c.2452-74A= NP_000079.2:n.2452-74A=
XM_005257058.3:c.2452-74A= XP_005257115.2:n.2452-74A=
XM_005257059.3:c.1534-74A= XP_005257116.2:n.1534-74A=
XM_011524341.1:c.2254-74A= XP_011522643.1:n.2254-74A=
XM_005257058.4:c.2452-74A= XP_005257115.2:n.2452-74A=
XM_005257059.4:c.1534-74A= XP_005257116.2:n.1534-74A=
NM_000088.4:c.2452-74A= MANE Select NP_000079.2:n.2452-74A=