Canonical Allele Identifier: CA400205282

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189277T>G , CM000679.2:g.50189277T>G	GRCh38
NC_000017.10:g.48266638T>G , CM000679.1:g.48266638T>G	GRCh37
NC_000017.9:g.45621637T>G	NCBI36
NG_007400.1:g.17363A>C , LRG_1:g.17363A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2830-2A>C MANE Select	NP_000079.2:n.2830-2A>C
ENST00000225964.10:c.2830-2A>C MANE Select	ENSP00000225964.6:n.2830-2A>C
NM_000088.3:c.2830-2A>C , LRG_1t1:c.2830-2A>C	NP_000079.2:n.2830-2A>C
ENST00000225964.9:c.2830-2A>C	ENSP00000225964.5:n.2830-2A>C
XM_005257058.3:c.2668-267A>C	XP_005257115.2:n.2668-267A>C
XM_005257058.4:c.2668-267A>C	XP_005257115.2:n.2668-267A>C
XM_005257059.3:c.1912-2A>C	XP_005257116.2:n.1912-2A>C
XM_005257059.4:c.1912-2A>C	XP_005257116.2:n.1912-2A>C
XM_011524341.1:c.2632-2A>C	XP_011522643.1:n.2632-2A>C