Canonical Allele Identifier: CA400213707

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270015A>G (hg19) ; chr17:g.50192654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192654A>G , CM000679.2:g.50192654A>G	GRCh38
NC_000017.10:g.48270015A>G , CM000679.1:g.48270015A>G	GRCh37
NC_000017.9:g.45625014A>G	NCBI36
NG_007400.1:g.13986T>C , LRG_1:g.13986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1915T>C MANE Select	ENSP00000225964.6:p.Ser639Pro
ENST00000225964.9:c.1915T>C	ENSP00000225964.5:p.Ser639Pro
ENST00000476387.1:n.264T>C
NM_000088.3:c.1915T>C , LRG_1t1:c.1915T>C	NP_000079.2:p.Ser639Pro
XM_005257058.3:c.1915T>C	XP_005257115.2:p.Ser639Pro
XM_005257059.3:c.997T>C	XP_005257116.2:p.Ser333Pro
XM_011524341.1:c.1717T>C	XP_011522643.1:p.Ser573Pro
XM_005257058.4:c.1915T>C	XP_005257115.2:p.Ser639Pro
XM_005257059.4:c.997T>C	XP_005257116.2:p.Ser333Pro
NM_000088.4:c.1915T>C MANE Select	NP_000079.2:p.Ser639Pro