Canonical Allele Identifier: CA2638710680

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50195805-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195805A>G , CM000679.2:g.50195805A>G	GRCh38
NC_000017.10:g.48273166A>G , CM000679.1:g.48273166A>G	GRCh37
NC_000017.9:g.45628165A>G	NCBI36
NG_007400.1:g.10835T>C , LRG_1:g.10835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+118T>C MANE Select	ENSP00000225964.6:n.1056+118T>C
ENST00000225964.9:c.1056+118T>C	ENSP00000225964.5:n.1056+118T>C
NM_000088.3:c.1056+118T>C , LRG_1t1:c.1056+118T>C	NP_000079.2:n.1056+118T>C
XM_005257058.3:c.1056+118T>C	XP_005257115.2:n.1056+118T>C
XM_005257059.3:c.957+509T>C	XP_005257116.2:n.957+509T>C
XM_011524341.1:c.958-327T>C	XP_011522643.1:n.958-327T>C
XM_005257058.4:c.1056+118T>C	XP_005257115.2:n.1056+118T>C
XM_005257059.4:c.957+509T>C	XP_005257116.2:n.957+509T>C
NM_000088.4:c.1056+118T>C MANE Select	NP_000079.2:n.1056+118T>C