Canonical Allele Identifier: CA2576317494

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196967T>C , CM000679.2:g.50196967T>C	GRCh38
NC_000017.10:g.48274328T>C , CM000679.1:g.48274328T>C	GRCh37
NC_000017.9:g.45629327T>C	NCBI36
NG_007400.1:g.9673A>G , LRG_1:g.9673A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.804+43A>G MANE Select	ENSP00000225964.6:n.804+43A>G
ENST00000225964.9:c.804+43A>G	ENSP00000225964.5:n.804+43A>G
ENST00000495677.1:n.531+43A>G
NM_000088.3:c.804+43A>G , LRG_1t1:c.804+43A>G	NP_000079.2:n.804+43A>G
XM_005257058.3:c.804+43A>G	XP_005257115.2:n.804+43A>G
XM_005257059.3:c.804+43A>G	XP_005257116.2:n.804+43A>G
XM_011524341.1:c.804+43A>G	XP_011522643.1:n.804+43A>G
XM_005257058.4:c.804+43A>G	XP_005257115.2:n.804+43A>G
XM_005257059.4:c.804+43A>G	XP_005257116.2:n.804+43A>G
NM_000088.4:c.804+43A>G MANE Select	NP_000079.2:n.804+43A>G